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Frequently Asked Questions


Birth Control
Blood Donation
Cancer
Cardiovascular Manifestations
Chelation Therapy
Ear Infection
Exercise
Eyes
Fatigue
Free Library Books
Gastrointestinal Manifestations
Genetic Test
Iron Absorption
Job Accommodation
Life Expectancy
Memory Loss
Menopause
Organ Donation
Pain
Personal Care
Physician Education
Pregnancy
PXE Gene Mutation
PXE Population Estimates
Skin
Sleep
Smoking
Stem Cell Therapy
Surgery
Vaginal Infection
Vitamins


 

Birth Control

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Q  Are IUDs a reasonable form of birth control in PXE? How dangerous are birth control pills?

A  There is some evidence that oral contraceptives may exacerbate PXE and they are best avoided. Intrauterine devices do not pose any added risk to patients with PXE and are therefore an acceptable form of birth control.

By Dr. Mark Lebwohl, Vol. 2:4 (July 1994)

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Blood Donation

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Q  Is it acceptable for a person with PXE to donate blood?

A  There is no medical reason why blood from an individual with PXE should not be accepted. However, I wouldn’t be surprised to hear that someone with PXE was not allowed to donate. Blood banks have very strict rules these days and a long list of disorders that will be turned down. I would bet that PXE will not be on the list, but because the blood bank worker has not heard of PXE and would therefore consider it a disease of unknown nature and cause, the worker might not take blood from an individual with PXE. Education is the solution to this problem!

By Dr. Kenneth Neldner, Vol. 6:4 (1998)

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Cancer

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Q  Is there any link between PXE and any type of cancer?

A  There is no known link between PXE and cancer. Patients with PXE do not have increased incidence of any type of cancer.

By Dr. Mark Lebwohl, Vol. 4:2 (Spring 1996)

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Cardiovascular Manifestations

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Q  Is PXE associated with heart problems or strokes?

A  There are isolated reports of heart attacks occurring in teenagers with PXE, and calcification of blood vessels, including the coronary arteries, is well known. There are several common complications of PXE that result from blood vessel involvement, including intermittent claudication (pain in the calves on walking), angina (chest pain or pressure on exertion) and diminished pulses due to calcification of blood vessels. Nevertheless, heart attacks are fortunately uncommon, and in one large series of patients followed for several years only one patient had a heart attack. Similarly, strokes which can be caused by bleeding in the head are also rare.

By Dr. Mark Lebwohl, Vol. 4:1 (Winter 1996)

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Q  Does PXE cause stroke?

A  PXE by itself is very rarely a cause for stroke; however, it is possible to also have hypertension, unrelated directly to PXE, and have the hypertension cause the stroke rather than the PXE.

Strokes can be due to a clot in an artery or to bleeding around a ruptured artery. If you have been taking aspirin, ibuprofen or any related pain pills, these can all cause thinning of the blood (anti-coagulant effect) and cause or make cerebral bleeding much worse. So you should not be taking such medications and make every effort to get your blood pressure back to normal.

By Dr. Kenneth Neldner, Vol. 10:3&4 (Aug 2004)

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Q  An inquiry came to NAPE from a PXE patient with a brain aneurysm. Her neurologist wants to do coiling, where a wire is threaded into the brain to plug the aneurysm. This procedure requires the intake of blood thinners. The patient is 68 years old and lost her central vision when she was 50. She would like advice about this procedure and how it would affect her PXE. Her neurologist does not seem to know much about PXE.

A  As I understand it, you have PXE and also a brain aneurysm for which your neurologist suggests a coiling procedure and anticoagulants. I don't know whether you have already had a retinal hemorrhage, which is common in PXE individuals at your tender age of 68 years.

Insofar as the use of anticoagulants (blood thinner medications) and PXE are concerned, we usually do not recommend them for PXE patients primarily because their use may increase the chances of retinal hemorrhage or gastrointestinal bleeding; however, it is important to think of the severity of the possible consequences of the use of anticoagulants. If significant cardiovascular problems exist - such as in your case, with an aneurysm which could have much more serious consequences than a retinal hemorrhage - anticoagulants would be considered appropriate. The same situation arises in those who have had one heart attack and should be on anticoagulants to prevent further heart attacks.

Stomach bleeding is a rare complication in PXE at any age; therefore, any signs of vomiting blood or passing black tarry-looking stools should be reported immediately to your doctor. But as stated this is a very rare event in PXE and should not stand in the way of using anticoagulants to help prevent more serious problems.

If I understand your situation correctly and I were in your shoes, I would take the anticoagulant.

By Dr. Kenneth Neldner, Vol. 11:3&4 (Dec 2005)

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Q  A 60-year-old male PXE patient was recently informed that he has small vessel disease in his heart and stomach. He asks, "What is small vessel disease and what impact will it have?

A  As the term "small vessel disease" implies, it means arteriosclerosis of small arteries within a major arterial supply bed. The important implication of this term is that small vessel disease is not treatable by interventional techniques (balloon, laser, stent, etc.), and it might only be treatable by certain drugs (nitrates, calcium antagonists, etc.). It might be responsible for certain symptoms of patients like angina pectoris of the heart, angina abdominalis (intestinal cramps one to two hours after a meal) or intermittent claudication of the legs (muscle cramps in the calf or foot of patients after a certain walking distance that is relieved after stopping the exercise.)

By Dr. Berthold Struk, Vol. 12:1 (May 2006)

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Q  Do all who have PXE end up having cardiovascular problems?

A  This is not a "must," but is likely. In genetic and medical terms "cardiovascular problems" are considered to be a cardiovascular phenotype, i.e., a cardiovascular disease manifestation of some kind. This can be coronary artery disease that eventually may lead to a heart attack if not appropriately treated. It can be peripheral artery disease that can cause blockage of an artery of a leg, arm or of the carotid artery that supplies the brain.

These disease phenotypes are called complex genetic phenotypes (traits). This means that they are usually determined by many different interacting genes. The PXE gene, ABCC6, is one of those genes that contributes to cardiovascular phenotypes in patients with PXE because these patients carry two defective copies of this gene that eliminate the normal function of the gene. Whether or not - and if at what age - PXE patients develop a cardiovascular phenotype depends not only on the defective ABCC6 but also on additional risk factors (risk genes) that determine predisposition to diabetes, high lipids, high blood pressure, adipositas, etc. In case anyone has all these polygenic risk factors in addition to suffering from PXE, then this person is likely to develop cardiovascular disease very early on, approximately 10-20 years earlier than a person with all these risk factors but without PXE.

Assuming that a person has PXE and no other cardiovascular risk factors, and perhaps a certain number of genetic factors that protect this person from susceptibility to cardiovascular disease, this person may develop cardiovascular symptoms very late in life or, if lucky, never and may die of a different cause than cardiovascular disease.

By Dr. Berthold Struk, Vol. 13:1 (April 2007)

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Q  Can a person with PXE take a baby aspirin every day? I am 67 years old.

A  There is no easy answer to this. As always in medicine, it depends.... In order to come to the right conclusion for a single patient, one needs to know the reason why someone wants to take a baby aspirin.

Does the person suffer from proven cardiovascular disease, and does the person want to use aspirin as second line prevention against further cardiovascular injury events? Does the person expect cardiovascular disease events due to age and want to use regular aspirin intake to prevent cardiovascular disease events?

What is the current visual status? Has the person had retinal bleeds? Has the person angioid streaks running through the macula? Is there any evidence that these streaks tend to leak?

What is the gastrointestinal status? Has the person had stomach or duodenal ulcers? Has the person ever had a gastrointestinal bleed?

What is the major health concern? Is it suffering a first stroke or heart attack? Is it to prevent a second stroke or heart attack? Is the worst thing to imagine the loss of central vision?

Depending on the individual answers to these questions, the individual recommendation for aspirin may vary. In general, the recommendation is that one should take a baby aspirin a day if there is proven cardiovascular disease, unless there are severe contra-indications against aspirin intake. In order for you to come to the right individual conclusion (whether to take aspirin or not), answer these questions with your doctors. Your primary care physician, your cardiologist and your retinologist will need to work out the right answer for  your individual case.

By Dr. Berthold Struk, Vol. 13:2 (July 2007)

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Chelation Therapy

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Q  What is the connection between penicillin and PXE? What is penicillamine? How is it connected to PXE?

A  There is no known connection between penicillin or penicillamine and PXE; i.e., PXE has never been brought on, aggravated by or helped by penicillin or penicillamine. Penicillamine is a chelating drug, used primarily for the treatment of Wilson's disease (a disorder of copper metabolism) and in some cases of severe rheumatoid arthritis. It has many adverse effects (too numerous to discuss here), but one is to produce skin changes which vaguely resemble PXE; however, they are not confined to the flexural sites as in PXE and are in no way comparable to PXE when examined microscopically. In my opinion, the term "PXE-like" changes from penicillamine therapy as reported in the medical literature should have never been used. It adds more confusion than help in our effort to learn about the basic biochemical causes for PXE.

By Dr. Kenneth Neldner, Vol. 3:4 (Fall 1995)

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Ear Infection

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Q  A NAPE member experiencing a stubborn ear infection for the past two years asks, "Has anyone seen ear problems related to PXE?"

A  Ear infections are not directly a complication of PXE. A culture and sensitivity study should show an antibiotic that would clear it up in a week or two. A serious problem should be diagnosed by an otologist. This will usually be an ear, nose and throat doctor.

By Dr. Kenneth Neldner, Vol. 12:1 (May 2006)

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Exercise

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Q  Are strain, heavy exercise, lifting or stress contributing factors to PXE?

A  Heavy lifting, straining or blows to the head are well known to precipitate retinal hemorrhages. Age is also a factor since we seldom see retinal hemorrhages below the age of 40 or 45 years. After that age range, such factors as heavy lifting or straining are much more important. Hypertension should also be well controlled if a problem. Ordinary lifting, up to approximately 20 to 25 pounds should be no problem. Avoid medicines that have anticoagulant qualities. A daily Ocuvite vitamin/mineral pill is worth taking. Laser treatment for fresh retinal hemorrhages is no longer considered worthwhile by most retinal specialists - it does not restore lost vision and leaves its own scar which will be as bad, or possibly worse, than Mother Nature's scar.

By Dr. Kenneth Neldner, Vol. 5:1 (1997)

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Q  I’ve heard so much about the value of exercise, but I can no longer jog or even fast walk. Weight lifting is out and I am not a swimmer. What’s left?

A  You are in luck! In the September 5, 2002, issue of the New England Journal of Medicine (Vol. 347), there was a very informative article by J.E. Manson entitled “Walking Compared to Vigorous Exercise for the Prevention of Cardiovascular (CV) Disease in Women.” It is a long, detailed article, but the conclusion was that walking is nearly as good as vigorous exercise in reducing the risk for CV disease. In fact, the reduction in risk was in the range of 30-50% for both forms of exercise, providing you walk longer if it is at a slower pace. A fast walk is at a rate of one mile in fifteen minutes, which is too fast for most people; therefore, walk the mile in 25-30 minutes and get the same benefit.

This particular study followed only CV disorders, but, as you know, CV problems can occur in PXE the same as for those without PXE. In PXE, walking provides the additional benefit of preventing or improving symptoms of intermittent claudication (JC), i.e., pains in the legs after walking.

If you can’t swim or don’t like deeper water, there are water exercise classes in pools three to four feet deep. This is especially good for anyone with aching joints because movements in the water are much easier and less painful.

Frequency of an exercise program is another question. Daily exercise is ideal, but three times per week is enough to maintain the benefits you have achieved. So let’s all get out there and do something – three times a week. Start slow and easy and build up as tolerated. You will feel better, look better and be better.

By Dr. Kenneth Neldner, Vol. 10:1 (Jan 2003)

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Eyes

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Q  When a person with PXE experiences leakage in the central vision, why does this leakage not expand into the peripheral vision? What do zinc and anti-oxidants do for people who have PXE? What is the theory regarding the damage that might be done when rubbing the eyes of a person affected by PXE?

and a related question...

Q  When patients have angioid streaks with loss of some central vision, do they ever gain back any vision lost from this? Do they ever have "good" vision again?

A  For unknown reasons, the macula (the small area in the center of your retina that accounts for sharp central vision) is more susceptible to retinal hemorrhages than any other area in the retina, although bleeding can occur in other areas. Hemorrhage is usually induced by tiny microscopically sized nicks (usually at the sites of angioid streaks) in one of the blood vessels supplying the retina. I presume that bleeding stops due to normal clotting mechanisms much the same way as a cut anywhere else in your body. The unfortunate aspect in the eye is that it heals with a scar that blocks vision - hence the loss of central vision. As many of you know, laser treatments (which are somewhat analogous to a spot weld) also leave a scar which blocks vision, so it becomes a matter of whether Nature's scar or the laser scar is better. Once an area of the retina has become scarred, the scar will never disappear (the same as a scar anywhere else on your body), so it is not possible to regain the vision that has been lost in this way.

It makes sense that vigorous rubbing of the eyes is comparable to head trauma and should be avoided, especially by anyone with a threatened retinal hemorrhage.

Vitamins, zinc, other minerals and other anti-oxidants are all nutrients known to be involved in both disease prevention and in normal wound healing. It is, of course, expecting too much to be able to take a vitamin pill and completely prevent retinal hemorrhages, but it seems logical to expect that the likelihood of having a retinal hemorrhage would be reduced, and that if one did occur it might heal faster. However, absolute proof of this is lacking. This is just one more example of the old question of heredity vs. the environment. None of us can do anything about the genes we inherit (or pass on) in any hereditary disorder, but it is possible, in most instances, to reduce the overall severity of the disorder by improving our environment (lifestyle, diet, exercise, smoking, controlling cholesterol) and thereby reducing risk factors.

Another comment regarding vitamin/mineral pills:  I recommend a good vitamin/mineral supplement for everyone with PXE - just to be sure that you don't develop any low-grade deficiencies - but don't believe that if a little is good, a lot is better. It is possible to overdose, especially vitamins A and D. Vitamin D is involved in calcium absorption, so large doses in PXE could actually be harmful over many years. The current recommendation of five servings of fruits and vegetables each day is a good one to give us most of the vitamins and minerals we need and is supposed to have many other health benefits.

By Dr. Kenneth Neldner, Vol. 3:4 (Fall 1995)

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Q  If I have had an intraocular bleed in one eye that has resulted in extreme central visual loss in that eye, what are my chances of this happening in my other eye?

A  The chance of developing central visual loss in the other eye depends on the location of angioid streaks in that eye. In a large series of patients with PXE, at least one out of ten developed severe visual loss bilaterally, and it is likely that the numbers are higher in patients who have central visual loss in one eye. Nevertheless, avoidance of anticoagulants such as aspirin, daily use of an Amsler grid and appropriate follow-up by a retina specialist should be of help.

By Dr. Mark Lebwohl, Vol. 4:1 (Winter 1996)

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Q  How will I know if I am having bleeding in my eye? Can I see it when I try to look at something? Can someone see it in my eyes when they are looking at me?

A  Bleeding in the eye may or may not be noticeable by a patient. It depends on the existing state of the eye as well as the location of the blood. If the bleeding occurs, with or without associated exudation, in the vicinity of the central macula, it is likely to be easily detectable by self-assessment examination. If there is pre-existing scarring within the eye, small areas of bleeding may be unnoticeable, even if they involve the center of the macula or the fovea.

By Dr. Lawrence Yannuzzi, Vol. 4:3 (1996)

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Q  If it is the blood that leaked into the eye that causes the visual problems, why can't the fluid in the eye where this blood resides just be removed and replaced?

A  The sequence of events in a retinal hemorrhage is proliferation of blood vessels, leakage, bleeding and scarring. Removal of the liquid or blood is possible but not curative. It is the scarring that produces the damaging changes on vision.

By Dr. Lawrence Yannuzzi, Vol. 4:3 (1996)

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Q  Bill is puzzled by the controversies that surround laser therapy for retinal hemorrhages.

A  This query can't be answered in a sentence or two, but if forced to, the simple answer would be - Bill, you're not alone! Since there are a number of unanswered questions relating to laser therapy, my response here represents my personal opinions. I am not an ophthalmologist so I base my opinions on talking to many PXE patients who have had a retinal hemorrhage and laser therapy. I'll try to summarize several items that I feel are significant.

I have never talked to anyone who has had laser treatments and felt that it restored any lost vision caused by a retinal hemorrhage. The advocates of laser treatments would probably respond by saying that without lasers the lost vision would have been worse. Unfortunately, this has never been proven one way or another. A huge study would need to be undertaken to compare the long term results of a group with and another group without laser treatments. This is something that PXE support groups could do, but it would take a great deal of help, time and money.

Most retinal hemorrhages involve the macula, where we have our sharp central vision. Laser treatments and natural healing both leave a scar which blocks vision. It is therefore totally impractical to laser the macular area, so they mostly laser around the macula and hope that it will somehow help within the macula. The basic problem comes down to the question of whose scare is better or smaller - the natural healing scar or the laser scar?

There is at least one published study by an ophthalmologist and retinal specialist which shows that in a long-term follow-up of laser scars, new retinal hemorrhages were more common around a laser scar than around a naturally healing scar. In England and throughout the UK the retinal specialists almost never use laser treatments for PXE retinal hemorrhages. Some American retinal specialists still use lasers on nearly all PXE retinal hemorrhages. But, in talking to patients, I find that many of them are now getting away from laser therapy for PXE.

There is, in my opinion, one major question that needs to be answered and it is probably the most difficult of all. It is, simply, could you prevent or stop a retinal hemorrhage from developing if you would use the laser in a very early, pre-hemorrhagic stage? Most retinal hemorrhages are preceded by a so-called sub-retinal membrane or net, caused by a slight leakage of plasma usually at the site of angioid streaks. These pre-hemorrhagic events can often be diagnosed with the Amsler grid, but the changes will be minimal. By the time unmistakable wavy lines are apparent, there will usually be frank red blood seen in the macula indicating a fresh retinal hemorrhage. Most people who suffer a retinal hemorrhage are seldom seen in this early stage, so there are no good studies to show if a hemorrhage could be prevented with a very early and very tiny laser treatment, aimed at the sub-retinal pre-hemorrhagic site, preventing a full blown retinal hemorrhage. It must always be kept in mind that any laser treatment will leave a scar that will block vision in the scarred area. There is a great need for a long term study to determine the possible value of such early laser treatments and, in my opinion, this is one of the major unanswered questions regarding the use of laser therapy in PXE

My bottom line advice to anyone who has just had a retinal hemorrhage and has been told to have laser treatment is, at the very least, to get a second opinion from another retinal specialist and ask the simple question, "What good will it do me in the long run?"

By Dr. Kenneth Neldner, Vol. 5:3 (1997)

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Q  If someone has a RH (retinal hemorrhage) in one eye, is there any way to prevent it from happening in the other eye?

A  There is no guaranteed way to prevent RHs in PXE. The overall incidence increases with age, particularly past the ages of 40 to 45 years. Some individuals will go much longer and some will never have a RH, but this latter group is in the minority. If an individual has a RH in one eye, the odds are that he or she will have a RH in the other eye within a few years, although the time interval is highly variable.

Why so much variation? The answer is not totally known; however, there are a number of risk factors for RHs which are at least partially under the control of each individual with PXE. These are listed and discussed below:

Head trauma is well known to trigger RHs. Accidental head injury is obviously impossible to prevent, but you can avoid high-risk activities such as sporting events where head trauma is likely. I can think of nothing worse than boxing, but football, soccer and rugby would be among the worst. Several intermediate activities would include basketball, baseball, skating and downhill skiing. Heavy weight lifting and straining are also to be avoided. Acceptable activities include most track events or jogging, swimming, cross-country skiing and bicycling. The latter group should be encouraged, especially in the adolescent age group. I also feel that shooting shotguns or high-powered rifles should be avoided due to the sharp jolting recoil against the cheek if it is held against the gun stock.

Frequent or excess use of anticoagulant medications allow for much easier bleeding whether it be nosebleeds, stomach or retinal bleeds. It should be remembered that common medications such as aspirin and the ibuprofen group (Advil, Motrin, Naprosyn, etc.) are anticoagulants in addition to pain relievers. It is all right to take them off and on for headaches, for example, but not for extended periods of time, especially if threatened by a RH. Tylenol and Darvon do not have anticoagulant properties and are all right to use.

Many ophthalmologists now believe that heavy exposure to outdoor bright sunlight (i.e., ultraviolet light) can cause both cataracts and retinal problems of many types. It is therefore a good idea to wear good ultraviolet protective dark glasses or coated lenses when you are outside for any prolonged period.

The value of vitamins and minerals in preventing complications of PXE is difficult to prove or disprove. It is, however, well known that healing of injured tissue, whether skin, eye or anywhere else, requires many different nutrients, but vitamins A, C and E plus zinc, copper and selenium are very important. There is an over-the-counter preparation called Ocuvite that contains all of these nutrients (I have no financial interest in Ocuvite) and is a convenient way to get them all in one pill, which I feel should be taken twice daily for at least a month or two by anyone having retinal problems, and then one daily for several more months.

It should also be re-emphasized that the use of laser therapy for the treatment of a fresh RH is of questionable value and is thought by some retinal specialists to be more harmful than helpful – except in extremely rare circumstances where the macula is not involved. Laser treated areas heal with a scar that is as bad (or worse) than the natural scar that forms in the site of a RH. It is important to emphasize that no one with PXE has ever gone completely blind after RHs. Central sharp vision may be lost, but peripheral vision is maintained which allows the individual to get around with little assistance.

Additional general measures would include avoidance of tobacco in any form. Dietary calcium should be kept at the recommended daily allowance. Anyone with elevated lipids (cholesterol, triglycerides, LDL and low HDL) should get medical help to get them into normal range. All aspects of PXE will be worse in anyone with abnormal lipid values. If you have high blood pressure, it should be carefully controlled. A regular exercise program is recommended.

By Dr. Kenneth Neldner, Vol. 5:4 (1997)

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Q  If someone has had a RH in both eyes, will they be able to continue to read?

A  It is highly variable since RHs come in all degrees of severity ranging from involving most all of the macula to only a small portion. In the latter case, the patient will usually have a small area of sharp vision remaining and can read well with it or can do so with the help of glasses with added magnification in just the right spot. Many individuals who have had RHs in both eyes can still read quite well with the help of specially tailored visual aids.

By Dr. Kenneth Neldner, Vol. 5:4 (1997)

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Q  What kind of jobs can someone hold who has had RHs in both eyes?

A  It obviously depends on the degree of sharp central vision that is lost and what kind of work or visual acuity is required for your job. The best I can say is that I know many with PXE who have had bilateral RHs and do continue to work. There is a growing number and variety of visual aids available that can do marvelous things for most people. It requires a complete evaluation of the specific degree and location of the visual defects and then a testing with many different types of visual aids to determine which is best for that individual.

By Dr. Kenneth Neldner, Vol. 5:4 (1997)

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Q  What about the use of contact lenses for individuals with PXE?

A  I checked with our local medical school retinal specialists and they say it should be okay for an individual with PXE to use contact lenses because the lens is up front in the eye – not the back of the eye where PXE causes trouble. However, I don’t think the answer should stop here. As I understand it (as a non-ophthalmologist), there are many individual factors involved, such that some people like soft lenses, some like hard lenses and some prefer those that can be left in overnight and longer. It would seem logical and prudent to make sure that anyone contemplating contact lenses should be sure to try as many different types as possible and then pick the one that feels best.

By Dr. Kenneth Neldner, Vol. 8:1 (May 2000)

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Q  My doctor suggested I take Ocuvite daily. To my surprise, there are many Ocuvites. Which should I use?

A  This response was stimulated by a question from one of our Australian PXE friends concerning Ocuvite, the vitamin and mineral preparation. The question relates to the composition of Ocuvite, which is designed to provide help in both prevention and healing of retinal disorders. The tablets contain vitamins A, C and E plus copper, zinc and selenium. Some also contain lutein. Our Australian friend very astutely noticed that her Ocuvite tablets contained 40 mg of zinc with recommendations to take one or two tabs daily. This is considerably more than the recommended dose of 15 mg daily; therefore, one tab daily (and definitely two tabs daily) would result in an overdose of zinc. Forty to eighty mg of zinc taken daily for long periods could have toxic side effects. Severe stomach upset is most common and is not good in PXE where the stomach is already sensitive to chronic irritation and bleeding. Larger overdoses produce copper deficiency and white blood cell deficiencies.

Dr. Kenneth Neldner, Vol. 9:4 (July 2002)

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Q  I’ve been seeing articles about lutein being good for my eyes. What is this all about?

A  Lutein has indeed been getting lots of publicity. Lutein is a so-called anti-oxidant substance that we all require to maintain healthy retinas. It is now known to be heavily concentrated in the macula and gives the macula its darker color compared to the rest of the retina. It commonly occurs with zeanthin, which is another anti-oxidant.

As you know, the macula is the central part of the retina that is involved in sharp vision and is also the area that is most susceptible to retinal hemorrhages in PXE and in age-related macular degeneration (AMD). Anyone with PXE (or AMD) who has a lutein deficiency is believed to be at increased risk for retinal hemorrhages. So where do you find lutein? It has been added to several different multi-vitamin preparations (for example, Centrum with Lutein); however, some nutritionists believe that absorption from a pill is not as good as from natural foods.

The richest concentrations of lutein is found in berries. Blueberries top the list, although raspberries and strawberries are also rich in lutein. Vegetables such as broccoli, spinach, kale, corn and zucchini all contain lutein in lesser concentrations.

The bottom line:  Put some blueberries on your Wheaties (or oatmeal) for breakfast each morning, and then try to add some veggies for lunch and/or dinner. It may not prevent retinal hemorrhages in PXE, but should help to postpone them and decrease severity if a hemorrhage does occur.

By Dr. Kenneth Neldner, Vol. 10:1 (Jan 2003)

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Q  Until recently, PXE patients understood that angioid streaks play an important role in loss of vision when subretinal bleeding occurs. Now we are told that vascular endothelial growth factor (VEGF) plays a significant role in causing the growth of subretinal leaky blood vessels when VEGF increases in the eye. What is the role of angioid streaks in PXE, either as an indicator of the likelihood of bleeding or as a more direct cause in the development of subretinal leaky blood vessels?

A  This is a great question and the person who discovers the answer may earn the Nobel Prize. Angioid streaks continue to play a role as they represent a break (or discontinuity) in Bruch's membrane, which separates the choroid (vascular layer) from the retina. The real question is why choroidal neovascularization (leaky, fragile new blood vessels) do not grow through these streaks for many years, and many times never grow through the angioid streaks at all.

There are many factors implicated in the cascade of events leading to the growth of these visually threatening blood vessels. For example, inflammation may play a role and certainly vascular endothelial growth factor (VEGF) is increased in eyes developing neovascularization in age-related macular degeneration (AMD). Inhibitors of VEGF are a powerful new tool in treating patients with choroidal neovascularization in AMD, and I have personal experience using these agents in PXE and AMD with great success.

In summary, whatever the mechanism is that begins the neovascular process, the angioid streak or break in Bruch's membrane is probably a prerequisite. Of course, it is the fragile, leaky blood vessels that may ultimately lead to a hemorrhage, scarring and possible loss of central vision. Even in AMD a microscopic defect in Bruch's membrane is probably required for the neovascular lesion to grow from the choroid to under the retina.

A final reminder is that patients with angioid streaks should wear protective eye wear when engaging in contact or racquet sports as mild trauma can lead to a hemorrhage even in the absence of choroidal neovascularization. Strenuous exercise, like heavy weight lifting which can turn the face red (Valsalva maneuver), can also lead to spontaneous hemorrhage in the presence of angioid streaks and should be avoided.

By Dr. Wayne Fuchs, Vol. 13:1 (Apr 2007)

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Fatigue

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Q  In the last issue of PXE Awareness we asked readers who have experienced a sudden feeling of fatigue to write to us describing their symptoms. Thus far we have heard from four of our members who have experienced severe bouts of fatigue lasting weeks to months. Thanks to those who replied, and also thanks for the detailed descriptions of your symptoms.

A  Any study of any type usually comes down to a numbers game, which means, simply, that there is strength in numbers. For example, if only 1 or 2% of all individuals with PXE develop a fatigue syndrome and the incidence of similar symptoms in the general population is 5 or 10%, you would be inclined to say the fatigue symptoms, although very real, were not related to PXE. On the other hand if the incidence of fatigue syndrome in PXE is, for example, 20%, you would then have to change your thinking.

There is a so-called Chronic Fatigue Syndrome that is fairly common in the general population, with symptoms much like those seen in PXE patients. It is more common in women (2 to 1) and is seen mostly in the 20- to 40-year age group. Again, the cause is unknown, but several other conditions must also be ruled out, such as thyroid deficiency, infectious mononucleosis, nutritional deficiencies, chronic infection and last but not least, stress reactions. The bottom line is that someone with PXE could coincidentally develop Chronic Fatigue Syndrome but totally unrelated to PXE. Or, it could be 100% related to PXE. We need bigger numbers to decide that.

By Dr. Kenneth Neldner, Vol. 7:4 (Jan 2000)

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Free Library Books

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Q  I was excited to learn about the Talking Book Program. The free cassette player and first selection of recorded books were warmly welcomed. Imagine my disappointment when I could not get the machine to work. I am frustrated with failed attempts to master this machine. Why is this machine so complicated?

A  Your excitement with the Library of Congress National Library Service for the Blind and Physically Handicapped is typical. This remarkable library of more than 70,000 recorded titles made 23 million loans last year, and each year several thousand more titles are recorded.

Your frustration with the cassette player is understandable. The cassettes look like the standard two-track tapes. But these tapes are four-track, and they play at half the standard speed to provide up to six hours of recording per tape. They play only on a special machine. While most readers can handle the Talking Book Machine, not everyone can. You are not alone.

To assist those with special problems, the National Library Service has developed the “Easy Cassette Machine.” It automatically performs functions that trouble some readers because they cannot see or because of other physical limitations. This machine does have to be plugged into electricity for operation. The reader then simply inserts the cassette and turns the player on. To obtain this machine free on loan, contact the Library Service and request it. Richard Smith, Director of the Wolfner Library in Jefferson City, Missouri, part of the National Library Service, suggests that this player should solve your problem. Give it a try. And happy reading.

By Dr. Frances Benham, Vol. 9:3 (May 2002)

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Gastrointestinal Manifestations

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Q  Darlene writes with a question and some comments on her experience with stomach bleeding. She also asks if PXE can affect the gums.

A  The answer is basically - no. We do commonly see a mottled yellowish appearance on the inside of the lower lip due to PXE which may extend up to the gums, but his does not cause gingivitis or any chronic gum infection. Gingivitis is common in the general population so it wouldn't be unusual to see it in someone with PXE, but you couldn't say that the PXE caused the gingivitis.

She also commented briefly about her retinal hemorrhage and the laser therapy she was given, but felt it did nothing to restore any lost central vision.

Darlene has had two stomach bleeds, one when she was four months pregnant and another a little over a year ago which she feels was caused, or at least aggravated, by taking too much Advil. The incidence of stomach bleeding is slightly higher (but not dramatically higher) during pregnancy. We also know that taking any medication that will thin the blood and act as an anticoagulant can cause bleeding anywhere in the body if taken to excess. This includes such common drugs as aspirin or any of the ibuprofen group (Advil, Motrin, Naprosyn, Aleve, ibuprofen and others). These drugs should be used very sparingly by anyone with PXE and not at all if there are any signs or threats of bleeding anywhere, especially in the eyes or stomach.

By Dr. Kenneth Neldner, Vol. 5:3 (1997)

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Q  Brian’s family wrote to tell me about his need for additional surgery to correct stomach bleeding, which has now involved a total gastrectomy.

A  There is no known explanation for the fact that about 10-15% of all individuals with PXE will have a gastric hemorrhage at some time in their lives. The episodes are usually mild and stop without surgery, but may require a partial gastrectomy in some with more severe bleeding. I cannot recall anyone who has required several surgical procedures and then ending with a total gastrectomy to finally stop the bleeding. Brian’s case was therefore as severe as it can get, but at least all of the potential bleeding areas should now be gone. There are exceedingly rare reports of mild bleeding at other sites in the GI tract, but I would not expect any such events for Brian.

Brian’s major problem now will be to get adequate nutrition. He should be followed by a good nutritionist who has a thorough knowledge of the role of the stomach in digestion and absorption of nutrients. For example, the initial breakdown of protein requires stomach acid which he obviously does not have. Vitamin B12 absorption also begins in the stomach. Brian should be able to lead a healthy life, but will need close daily attention to his diet and frequent monitoring of blood levels of vitamins, minerals, lipids, proteins, etc.

By Dr. Kenneth Neldner, Vol. 8:1 (May 2000)

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Genetic Test

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Q  Curtis asks about a blood test to diagnose PXE which would be useful for children in PXE families before they would develop any signs of the disorder.

A  This is a good question because early diagnosis is important since measures to reduce risk factors are more effective in younger individuals. I am especially pleased to respond to Curtis because his family was one of the sixty “two-sib” families who contributed blood specimens for the studies which resulted in our discovery of the chromosome (16) that carries the PXE gene.

The answer is that we are getting there and should, in the next few years, have a blood test that will tell us if anyone is carrying the PXE gene. At present such tests are complex, time consuming and therefore expensive.

By Dr. Kenneth Neldner, Vol. 6:1 (1998)

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Iron Absorption

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Q  Does PXE affect the absorption of iron in the body?

A  PXE is not known to affect absorption of iron in the body, but patients with PXE may suffer from gastrointestinal bleeding which results in loss of iron and anemia. The bleeding may be sufficiently minor that it is not visible, but can be detected by easy routine examinations of the stool. Stool examinations for occult blood are routinely conducted in patients who are anemic and iron deficient and can be done by most physicians.

By Dr. Mark Lebwohl, Vol. 4:1 (Winter 1996)

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Job Accommodation

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Q  With the new changes in the "Americans With Disabilities Act," does an employer have to accommodate a person who becomes disabled because of PXE?

A  Patients with PXE can certainly become disabled for a variety of reasons, including severe ocular disease, cardiac complications or vascular complications of the disorder. While I am not an attorney, it is my impression that patients disabled because of PXE qualify for many disability benefits, and we have been instrumental in obtaining those benefits for several of our patients.

By Dr. Mark Lebwohl, Vol. 4:1 (Winter 1996)

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Life Expectancy

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Q  With all the reports of stomach bleeding, veins becoming calcified and the problems reported with the heart, doesn't all this shorten our life spans? It seems like everyone says that our life span is normal, but how can it be with all the problems?

A  This is obviously a very significant question for anyone with PXE and, for that matter, a question that everyone (PXE or not) is concerned about. There are literally hundreds of inherited and non-hereditary disorders that can affect total life span for any of us. We don't know the exact answer for PXE, but to the best of my knowledge and experience, I do not hear of individuals with PXE succumbing to premature death. To be sure, there are reports in the medical literature of individuals with PXE having heart attacks at an early age, but these are rare and I doubt if any more common than the reports of those without PXE having heart attacks in their 20s and 30s. Most of these have had very high cholesterol and have not controlled it. Most of the problems and complications of PXE are non-lethal, which is why I feel that the lifespan in PXE is at or very near average for the population.

By Dr. Kenneth Neldner, Vol. 3:4 (Fall 1995)

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Memory Loss

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Q  Can memory be affected by PXE?

A  Complaints of memory loss are common even in patients who do not have PXE, and I am not aware of any reports specifically studying memory loss in patients with PXE. It is not my impression that patients with PXE complain of memory loss any more often than other patients. However, I am sure that the day this question is published, numerous patients will call complaining about memory loss. A definite answer to this question will have to wait further study.

By Dr. Mark Lebwohl, Vol. 4:1 (Winter 1996)

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Menopause

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Q  Kathleen asks about menopausal hormone replacement therapy for herself. She has PXE and has had a hysterectomy for uterine cancer. Her doctor wants her to take estrogen for prevention of osteoporosis and other menopausal symptoms.

A  This is a common and another difficult question which comes down to balancing one side against the other. Women with a recent history of breast or uterine cancer are supposed to be at a slightly increased risk for recurrence of cancer if they take estrogen. On the other hand, osteoporosis will almost certainly be worse if estrogen is not taken. If it were a simple matter of getting osteoporosis or cancer, the answer would be easy, the increased risk for cancer in women taking estrogen is actually very low, so it’s not just a matter of cancer vs. osteoporosis.

There are now very good and accurate tests to measure bone density to diagnose the degree of osteoporosis present. I would strongly recommend that all women of menopausal age (with or without PXE) have such a test. If they are developing osteoporosis, I would recommend estrogen at the lowest dose level. If the bone density is normal, it then comes back to an individual preference. Because of the many other benefits ascribed to estrogen replacement therapy, I feel that it should at least be given a six-month trial with some extra precautions to have regular checks for breast and uterine cancer.

There is a new non-estrogen product on the market called Raloxifene (Evista-Lilly) that is being advertised as having anti-osteoporosis properties without the added risk for breast and uterine cancer. Its long-term safety and effectiveness have not yet been proven so it must still be considered experimental.

By Dr. Kenneth Neldner, Vol. 6:3 (1998)

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Organ Donation

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Q  What about organ donation by someone with PXE?

A  It would probably be all right for a young individual with no PXE complications to donate an organ; however, my best guess would be that a transplant surgeon would probably reject anyone diagnosed with PXE because of uncharted dangers in years to come.

This question generates some related questions that are fundamental to the basic biochemistry of PXE. Many years ago, I did a small exchange graft on a patient with quite extensive PXE skin lesions. I excised a small half-inch square piece of affected skin from her axilla (underarm) and moved it to her abdomen where her skin was normal. A similar sized piece of the normal abdominal skin was excised and placed in the defect in the axilla. So this piece of normal skin was now surrounded by PXE affected skin. Both grafts healed very well in their new locations.

What do you think happened at each site?

The shortest answer is “nothing happened.” The normal skin in the armpit area (axilla) remained normal; i.e., it didn’t turn to PXE affected skin, and the piece of PXE skin on the abdomen stayed as PXE skin. If we knew the answers to why it turned out this way, we would be a lot smarter about some of the basic biochemical causes of PXE.

By Dr. Kenneth Neldner, Vol. 8:1 (May 2000)

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Pain

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Q  I have inflammatory arthritis and take Relafen for it. Is it all right to be taking this medication with PXE?

A  Relafen is one of a large group of so-called non-steroidal anti-inflammatory drugs (NSAIDs) useful in the treatment of arthritis and other painful conditions. The NSAIDs include a large (and growing) number of drugs including Ibuprofen, Motrin, Advil, Naprosyn, Relafen and others. NSAIDs have the major side effect of causing stomach irritation and increased bleeding tendencies. I would therefore not recommend that any of the NSAIDs be taken by anyone with a threatened or actual retinal hemorrhage or any stomach upset or stomach bleeding. An occasional NSAID for a headache or muscle ache would be all right, but not as a daily, long-term medication. Aspirin can also cause increased bleeding. Tylenol is one of the few pain relievers that has no effect on bleeding.

By Dr. Kenneth Neldner, Vol. 3:2 (Spring 1995)

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Q  If someone does have inflammatory arthritis, what medications do you suggest?

A  First...what you should not take. Most OTC analgesics, like aspirin and the large group of ibuprofen-like non-steroidal anti-inflammatory drugs, will decrease blood clotting and make bleeding easier, especially in those who have any tendency to bleed in the stomach or have had retinal hemorrhages. Tylenol does not do this, but isn't a very potent pain reliever.

Arthritis is not directly related to PXE but is very common and can by pure chance occur in someone who also has PXE. If your arthritis is severe, you should see a rheumatologist who, depending on the severity of your joint pains, would prescribe an appropriate analgesic.

Be sure to tell the rheumatologist that you should not have a medication that would thin your blood and make bleeding easier.

By Dr. Kenneth Neldner, Vol. 3:3 (Summer 1995)

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Q  For the past ten months I have had pain in both knees. The pain does not seem to be in the joint. Since PXE affects connective tissue, does it ever affect ligaments, tendons or muscles? I don't know which kind of doctor to see to find out what my problem is.

A  You should probably see a rheumatologist for a diagnosis of a specific cause. PXE can cause generalized leg pains (intermittent claudication) that come with exertion, but then go away with rest. You may have osteoarthritis - a common condition - and the rheumatologist may refer you to an orthopedic surgeon for additional consultation and possible surgery. Hip and knee replacements in recent years have proven to be very successful.

By Dr. Kenneth Neldner, Vol. 5:1 (1997)

 

Q  What non-steroid or steroid is recommended for PXE patients who have joint pain?

A  The occasional use of the non-steroidal anti-inflammatory drugs (ibuprofen-Motrin-Advil group) is all right, but should not be used on a frequent or regular basis. They are known to cause quite significant stomach irritation and small amounts of bleeding, so the combination is not good. Aspirin also has a similar anti-coagulant effect, so the same holds true for long-term daily use of aspirin. Tylenol has no anti-coagulant effect, so it is okay to use. I personally don't think it is a very good analgesic, but if it works for you then use it.

Pure cortisone (prednisone) has many side effects (all bad) if taken for long periods in high doses. The side effects are in direct proportion to the dose and the duration. Depending on your needs your family doctor or a rheumatologist would recommend a proper dosage schedule for you.

The major question is why do you have joint pains? Is it rheumatoid arthritis or osteoarthritis or something else? Which joints are affected? Have you tried methotrexate: Are you a candidate for hip or knee replacement: A rheumatologist should be able to answer these questions for you.

By Dr. Kenneth Neldner, Vol. 5:2 (1997)

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Q  Are my joint aches and pains a result of PXE?

A  The best I can say is that arthritic symptoms of any kind are not directly related to or caused by PXE. Mild to moderate joint aches and pains are very common among the general population – affecting nearly all adults at one time or another – and are usually related to the amount of stress on the joints or spine. More severe arthritic joint involvement affects at least a third of the population, so it is to be expected that some people with PXE also experience joint pain, but it cannot be said that the cause is PXE.

It is okay to take an occasional analgesic medication if the discomfort is troublesome. Of the NSAID group, Naprosyn is supposed to have less of an anticoagulant side effect than Advil or Motrin, so is preferable. Aspirin also has significant anticoagulant effects. The only recommendation is that you don’t take any of them daily for several weeks in a row. This can build up an anticoagulant effect that could make you more susceptible to a retinal or stomach hemorrhage. Tylenol is all right to take because it has no anticoagulant effect, but it is a rather poor analgesic, in my opinion, although it does seem to work well for some people.

By Dr. Kenneth Neldner, Vol. 7:2 (Summer 1999)

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Q  Joanne in Canada states she was not diagnosed with PXE until age 41 – most unusual. She also suffers from migraine headaches and wishes to know if herniated cervical disk problems are related to PXE and what are the recommended treatments.

A  It was a little surprising to hear that you were first diagnosed at age 41. The average age of onset is about age 13 years. Have you had skin lesions on your neck since adolescence that were just not diagnosed by any of your doctors?

Angioid streaks usually appear within a year or two after the onset of skin lesions, so I am sure that you have had the streaks for many years. They are asymptomatic by themselves, but unfortunately are often the sites for future retinal hemorrhages in the fifth and sixth decades of life.

Your problems with herniated cervical disk are more complicated. Herniated disks are, as you know, quite common and are not related or caused in any way by PXE. It is known, however, that Marfan’s Syndrome and Ehlers-Danlos Syndrome can have hypermobility of the joints and on very rare occasions PXE, and both of these syndromes have been reported in association with PXE. It would take some rather detailed studies to make sure of such a diagnosis and you must be seen by someone who is very familiar with all types of connective tissue disorders. However, if by the rarest of circumstances you have manifestations of two disorders, it could possibly aggravate a herniated disk.

Cortisone shots are usually very effective in giving temporary relief, but cannot be continued for long periods because of the side effect of atrophy of tissues which could possibly aggravate the original disk problem.

Massage and ultrasound should have no adverse effects. The only question is – do they have any beneficial effects?

Frankly, I have not heard of laser therapy for herniated disks. Laser therapy is being used for just about every ailment known, but I have not heard of its use for this indication. Although I see no harm to your PXE, I would wonder about the disk area; i.e., a laser “hit” is like a spot welding torch and creates considerable inflammation at the site of the hit. It’s a bit like a highly focused hot iron burn. Could this increase the inflammation around the disk?

Have you really exhausted all efforts for a surgical approach? It’s obviously impossible to say anything for sure without knowing more, but if you continue to have pain, it seems quite possible that you still have a protruding disk somewhere in the area. If you haven’t done so, you should have a thorough evaluation by a top notch neurosurgeon. Some orthopedic surgeons specialize in disk and back problems and are also quite good at such matters.

Regarding your migraine headaches, I know that they can be very mean and knock you out of circulation for a few days. I am not familiar with the medications you listed, which are mainly Canadian trade names; however, we are only concerned over prolonged use of any of the analgesic drugs being used by PXE patients that also have the property of being an anticoagulant and therefore make bleeding easier. Aspirin can do this as well as the ibuprofen group such as Advil, Motrin, etc. (the so-called “non-steroidal anti-inflammatory drugs” or NSAIDs). There is nothing wrong with taking an occasional one or two of these from time to time, but just don’t take them several times daily for weeks on end. Tylenol does not cause thinning of the blood, but at least for me it isn’t a very effective analgesic. I don’t think any of the drugs you listed will have much of an anticoagulant effect, but you should ask your doctor. But, even if they do, it would be safe to take them for a day or two.

You didn’t ask, but you should be taking extra care of your eyes since you are approaching the age when retinal hemorrhages become more common. You should be taking a daily vitamin/mineral preparation with vitamins A, C and E plus zinc, copper and selenium. There is one such preparation available in the U.S. called Ocuvite that contains these nutrients. I’m not sure of this one, but bilberries or blueberries also are supposed to have some protective effect. At least they taste good! Be sure to wear good UVL protective shades when you are out in the bright sun for any extended period of time. Just get in the habit of wearing them whenever you go outside – then you won’t forget.

By Dr. Kenneth Neldner, Vol. 7:2 (Summer 1999)

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Q  My sister has PXE and very low vision. She has a lot of joint pain and has been prescribed cortisone injections. She is worried that might cause bleeding in her eyes.

A  Cortisone, administered by any route, has been used over forty years and is very effective for a variety of medical conditions. The most important thing is not to use it for long periods of time because side effects begin to appear after about 4-6 weeks of continual use, so for most conditions its use should be limited to about six weeks.

By Dr. Kenneth Neldner, Vol. 13:1 (April 2007)

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Personal Care

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Q  How often should people with PXE visit their physician to check the progression of their PXE? Is it different for different specialities, e.g., the eye versus the skin or the vessels?

A  While there are no firm guidelines, patients with PXE should probably see an ophthalmologist and the physician following them for their PXE at least once a year. If new symptoms develop, the patient should see the physician sooner. Patients should also use an Amsler grid on a daily basis to check their own vision. If changes occur, they should be seen immediately by a retina specialist.

By Dr. Mark Lebwohl, Vol. 4:1 (Winter 1996)

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Q  How do you find a PXE knowledgeable physician anywhere?

A  Because of the rarity of PXE there are few physicians who ever see more than two or three individuals with PXE in a lifetime of medical practice. In addition, it is hard enough these days for physicians to keep up with everything that is known about the common disorders, much less rare disorders.

A dermatologist is the one specialist that will have the greatest experience with PXE and should be able to make a diagnosis. They will have seen at least a few cases during their three years of residency training to become dermatologists. At least for now, a skin biopsy is the only absolute way to establish a diagnosis of PXE. The procedure is simple and is best done by a dermatologist who will also know the appropriate stain to order when the specimen is sent to a dermatopathologist.

Ophthalmologists, especially retinal specialists, will be able to diagnose angioid streaks in the eyes, and should then send the patient on to a dermatologist for verification of PXE by skin biopsy.

My best recommendation for PXE patients is to look for a dermatologist and a retinal ophthalmologist who seem interested in your special condition. If not successful, I would contact the medical school nearest to where I lived. Their experience with PXE may not be great, but they will be more familiar with it than the average physician.

By Dr. Kenneth Neldner, Vol. 6:1 (1998)

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Q  Since having a retinal hemorrhage in both eyes and a visual acuity of 20/200, I have lost my driver’s license. This loss of independence has been a major hurdle for me. Do you have any suggestions?

A  You have asked one of the most difficult questions relating to the lifelong management of PXE. Once a visual field is totally scarred and lost, the chances of its being restored are essentially zero.

We are hopeful that some of the new experimental treatments for retinal hemorrhages will limit the area involved to a much smaller size and allow for some remaining macula to function. We do know that the old conventional laser treatments often leave a healed scar that is as bad as, or worse than, scars from the natural healing process. We are awaiting the long-term results of newer therapies.

The much more common condition of age-related macular degeneration (AMD) is creating a great deal of research interest around the world. Although unrelated to PXE, AMD affects the macula in the same way as PXE so we are expecting that whatever works well for AMD will do the same for PXE. So keep a close watch on anything you hear or read about AMD research.

I sympathize with your loss of ability to drive since we depend on cars so heavily in our daily lives. There are times when we have to take consolation in what we still have. And in PXE there are many things to be thankful for. Peripheral vision always remains and no one ever goes completely blind. For some there are small “windows” of normal macula left that were not involved in the retinal hemorrhage. These can be used to great advantage, but need the help of a good ophthalmologist to design glasses based on remaining clear vision. I have seen several such cases that could see enough to read easily.

My strongest advice for anyone who has had retinal hemorrhages in both eyes and has 20/200 vision is to find a good low vision clinic. There are many low vision clinics across the U.S. but only a few that are excellent. A major criteria is that they must have all of the various gadgets and magnification devices to try. What works for one may not work for the next, so you must try at least ten or twelve such devices.

Once again, keep a watch for AMD facilities. The Lions Club has a national program to support low vision eye disorders. If you have a Lions Club in your community, you may be able to get help, including financial assistance. Most states have similar programs, but each will be different. You need to just keep asking.

I’m sorry that none of this will put you back behind the wheel of your car, but if any of the low vision devices should work well for you, you may be able to drive a little – providing that you get to know the traffic cop in your part of town!

By Dr. Kenneth Neldner, Vol. 9:2 (Nov 2001)

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Q  Holidays are supposed to be happy times, but somehow I end up feeling stressed. This is especially true for the Christmas/New Year’s season. I feel especially blue and worn out when the season has passed, and I feel I’ve let my family down. Is something wrong with me?

A  “Your sadness and fatigue might be nothing more than your body’s way of telling you that it’s time to relax and stop burning the candle at both ends,” says Joan Lang, MD, Chair of the Department of Psychiatry at St. Louis University School of Medicine. “If you had too good a time and overindulged during the holidays, try to make room in your life for more sleep, healthier and lighter eating, drinking lots of water, walking in the fresh, brisk air or getting out for other exercise.”

However, sometimes the blues are a sign that the holidays didn’t go quite the way you hoped. You may feel sad, disappointed, guilty or regretful that your holidays didn’t live up to the hype of a Norman Rockwell painting.

“Try to be kind to yourself and forgiving of the fragilities of others. Look at the holidays realistically – they weren’t perfect, but there probably were some moments that went well. Remember the look of happiness and surprise on your mother’s face when she opened your Christmas gift or the fun you had playing with your nephew. Focus on the positives and figure out what you can do to make things better next year. If you change your choreography, you might be pleasantly surprised at how other people get into step.”

By Dr. Joan Lang, Vol. 9:3 (May 2002)

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Q  How do I find a doctor who is familiar with PXE?

A  A quick answer is, “It ain’t easy!” The long answer is that it depends on the type of services and answers you need. I’ll try to summarize a few thoughts and general recommendations.

If you have a question about a diagnosis for yourself or a family member, your best bet is to consult a dermatologist. All dermatologists should have at least seen a few cases during their training. Family doctors and all other specialists (except ophthalmologists) will most likely have no experience with PXE and won’t even think of the possibility. A dermatologist should be highly suspicious of PXE by just looking at the skin lesions. He/she may want to do a small 4mm skin biopsy which is the best way to absolutely confirm (or disprove) the diagnosis.

Assuming the diagnosis is PXE, your next questions should be:  what is PXE, what are the symptoms and what can I do to help prevent complications. The going now gets tougher! Dermatologists who have seen a few patients with PXE over the years will usually be lacking in experience and answers to your questions. In all fairness, there are over 400 rare hereditary disorders so it is impossible to keep up with all of them. A good dermatologist will send you to a retinal specialist for an eye evaluation and to an internal medicine specialist for a cardiovascular examination and general lab tests. These are the routine studies that everyone should have.

Your next problem may become more difficult, i.e., how to find a physician who has experience with the long-term management of PXE. There are therapeutic recommendations that begin in childhood and become different as each decade goes by. Without knowing a detailed past medical history, about the one thing I can do here is to make some general recommendations:

  1. Be sure to have some of our NAPE brochures with you to give to your doctors. Remember, in the beginning you have to teach your doctor about PXE and not the other way around. Once they learn about all the possible manifestations, they will be able to follow you better and get the appropriate lab studies when indicated. If you don’t have a brochure, contact the NAPE office and ask for some to be sent to you. If you use a computer, go to NAPE's website section "Must Reading for the Newly Diagnosed." The first article is NAPE's brochure.

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  1. You can contact the NAPE office and ask about possible physician referrals, but this may depend on where you live. If you have a specific problem, we will try to get you to the proper specialist or at least make a recommendation for the best place to go. Check our website for more PXE news.
  1. Be sure to maintain your membership in NAPE to receive our newsletter. We try to keep you posted on the latest treatments and recommendations for all ages. If you move, don’t forget to send your new address.

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By Dr. Kenneth Neldner, Vol. 10:1 (Jan 2003)

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Physician Education

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Q  What can be done to inform physicians about PXE? It seems that they still don't know about the disease. How can we get the appropriate education out to them? We as lay people have to rely on them and yet they don't know about our disease?

A  One of the best things you can do for your physician is to send him literature about PXE. A gift subscription to the newsletter of the National Association for PXE would be a good way to start.

By Dr. Mark Lebwohl, Vol. 4:2 (Spring 1996)

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Pregnancy

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Q  Do patients with PXE who become pregnant have a higher risk of miscarriage? What should a pregnant woman avoid, and what steps should she take? What are the complications associated with PXE in pregnancy? Which method of delivery is suggested, Cesarean section or natural? How soon can an infant be tested for PXE?

A  Although I have taken care of patients with PXE who have had miscarriages, most patients have normal pregnancies. There are, however, several complications reported in pregnant women with PXE. Gastrointestinal bleeding and uterine bleeding can occur. One of the main culprits has been aspirin and this should be avoided by patients with PXE, especially during pregnancy.

Finally, we do not yet have laboratory tests to detect PXE in infants, and it is rare for the disorder to be manifested in infancy. Later in life, PXE can be diagnosed by characteristic skin and eye changes. I am hopeful we will have a definitive test for the diagnosis of PXE in the future, and that test should be informative in newborn infants. It is even possible that prenatal detection of PXE will become available.

By Dr. Mark Lebwohl, Vol. 3:1 (Jan 1995)

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PXE Gene Mutation

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Q  My daughter’s baby is due in three weeks. We hear a lot about saving the baby’s umbilical cord blood for the potential future use of the baby’s stem cells for the health care of the baby and perhaps for my PXE. Please advise if this is a reasonable investment.

A  I agree with Dr. Ken Neldner that you are unlikely to see a result from this investment in the near future. There is so much media hype surrounding cryopreservation of stem cells of newborns. Companies base their financial success on that hype and the hopes of many for scientific breakthroughs resulting in dramatic cures. A recent article in the official German medical association bulletin suggested that the likelihood of gaining advantage from cryopreservation is about the odds of winning a lottery jackpot. Purchase of the service turns not on a rational decision, but on hope – only that. You would demonstrate through this investment a willingness to pay for the theoretical possibility that it might prove helpful at some unknown future time. That time might never come, or it may come sooner than we can imagine. No one knows.

Recently many of us lost money on stock investments. We knew such investments carried risk, but we concluded the risk worth taking. One might approach cryopreservation with a similar mindset. If you can afford to lose several hundred dollars per year, your investment in hope would be understandable. Dr. Neldner and I, like many doctors, appreciate the courage it takes to live successfully with PXE complications. We hope, too, and we necessarily temper our hope with the responsibility of helping you cope realistically. Like so much in life, this is not a simple decision.

By Dr. Berthold Struk, Vol. 9:4 (July 2002)

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PXE Population Estimates

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Q  Do we know how many cases of PXE there are in the U.S.? Are there a lot of people who don't know they have PXE?

A  Published estimates regarding the prevalence of PXE vary tremendously, but the numbers quoted most frequently range from 1 in 100,000 to 1 in 160,000 individuals. Judging from the number of patients I have examined from the New York metropolitan area, PXE must be significantly more common than those numbers would indicate. There are several problems that limit our ability to come up with a precise answer to this question. There is no definitive blood test for PXE. As a result, many patients with mild symptoms are overlooked. Moreover, there are patients who might not have skin lesions of PXE but develop other complications, and these patients are commonly misdiagnosed. Finally, many physicians are simply unaware of PXE and therefore miss the diagnosis even in obvious cases.

By Dr. Mark Lebwohl, Vol. 4:1 (Winter 1996)

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Skin

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Q  Is there anything that will eliminate skin lesions?

A  There is no topical or systemic medication known to improve the skin lesions of PXE. Plastic surgery has given good results, especially on the lateral neck. Axillary lesions, particularly if the skin is loose and sagging, may also be improved by plastic surgery, although the effect may be less dramatic than with neck lesions. Unfortunately, insurance companies consider this cosmetic surgery and generally will not cover the costs of such procedures.

By Dr. Kenneth Neldner, Vol. 3:2 (Spring 1995)

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Q  A plastic surgeon wrote to me about a PXE patient he saw who wanted laser treatments (also called resurfacing) for the cobblestone skin lesions on her neck. The surgeon asked if this procedure might be of help to the patient.

A  My shortest answer would be “no.” The skin changes in PXE involve the full thickness of the skin. Treatment of any kind of removal would therefore have to go nearly full thickness to remove the calcified elastic fibers. Any treatment that goes that deep would also leave scarring that would look worse than the original PXE.

The effects of a laser treatment are somewhat analogous to thermal burns. If they are only superficial (first degree), they heal with no scarring; but, if deep or full thickness (third degree), they heal with severe scarring.

Another analogy would be all of the new treatments recommended for removing age-related wrinkles. These include various acids and laser resurfacing. If the wrinkles are superficial, the results with most any treatment will help somewhat. If they are deep (the ones you really want to get rid of), the laser can’t reach the bottom and if it does, it will leave scars, as in a third degree burn, and look worse than the original wrinkles.

PS: Plastic surgery with a necklift procedure is by far the best treatment for the cosmetic improvement of PXE neck lesions.

By Dr. Kenneth Neldner, Vol. 8:1 (May 2000)

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Q  I am 18 and have a bad case of stretch marks. Note: I’ve never been pregnant. I have been thinking about removing them with laser surgery; however, I’ve been told that people of darker skin have a greater ability of getting keloid skin after laser surgery. Do I have any other options? Are there any creams that prevent and remove stretch marks?

A  I understand you do have PXE and have the typical and characteristic skin lesions on your neck, folds of arms, axillae and groin. And that you also have angioid streaks in your retinas.

Regarding your stretch marks, it is difficult to say much without seeing you. True stretch marks are always due to abnormal stretching of the skin during times of overweight, or in the case of women they are common on the abdomen after pregnancy. The lesions of PXE can resemble stretch marks in the groins and axillae, so without knowing more about you or seeing your skin it is difficult to say much with assurance. I can tell you that laser surgery is not a good way to attempt to remove stretch marks (or PXE skin lesions). It will only leave scars that are worse than the original marks.

If you have true stretch marks related to being overweight, the best treatment is to make sure you maintain normal weight. Time will usually improve them once the stress on the skin is removed. Although they may not totally disappear, in time they should become cosmetically acceptable.

By Dr. Kenneth Neldner, Vol. 9:1 (Spring 2001)

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Sleep

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Q  Several NAPE members have asked about sleep disturbances and wonder if it is PXE related.

A  Insomnia and a variety of sleep disorders are common problems in the general population. To the best of my knowledge, none are directly caused or aggravated by PXE. There have been a number of recent articles in the medical literature on sleep disorders, all of which emphasize the need for adequate sleep to function normally during the day. A growing number of Americans do not get enough sleep to function up to par during the day. There are now physicians who specialize in sleep disorders.

Sleep study experts divide sleep into two major categories based on measure of electrical activity in the brain during sleep. The first is called REM (Rapid Eye Movement) sleep during which time the brain waves are almost as active as during waking hours and the eyes can be seen to move beneath the closed lids. This is also the time of the most vivid dreams. The second phase is called SWS (Slow Wave Sleep), which in turn can be sub-divided into four stages during which the brain waves slow down and cause a gradual deepening of sleep throughout the four states, with state four being the deepest sleep.

There are apparently a variety of different restorative functions occurring in each state and phase such that “a good night’s sleep” requires some time in each phase. One bad news item is that sleep patterns change with age. Starting at about 60-65 years, our brains have difficulty getting into the deeper states of SWS sleep, and by age 75 some people may not be able to get into the deepest stage four at all.

How much sleep do adults need? The answer is unknown because the requirements vary considerably from person to person. The traditional eight hours probably suits most people the best. However, many do well with 7 hours, while others need 9 or 10 hours. But at least some who are “burning the candle at both ends” are probably not getting enough sleep for their general health and best daily function. If you are still drowsy after getting up in the morning, you are probably not getting enough sleep. You should wake in the morning, as the old saying goes, feeling “bright eyed and bushy tailed.”

There are many causes for sleep disturbances, whether difficulty in falling asleep or frequent waking during the night. I’ll list some of the most common causes and some possible corrections.

- As stated, aging is in itself a common cause for disturbed sleep. Unfortunately, this is not a correctable cause – I only wish it were.

- Avoid caffeine in the afternoon, especially in the late afternoon. It will impair getting to sleep and then interfere with the stages of deep sleep later in the night. If you must have coffee with your evening meal, make sure it is decaf.

- Alcohol with dinner or at bedtime will cause drowsiness and help in getting to sleep, but will then later disrupt slow wave deep sleep. So the idea of having a “night cap” at bedtime may not be good if you’re having sleep disturbances during the night. Some feel that hot milk with cocoa at bedtime is much better than alcohol.

- Sticking to a routine is believed to be very important, i.e., go to bed and get up at the same time each day. Your body becomes programmed and tries to stay on schedule – if you will let it. Each person must find their own schedule. If you are an early riser then you must get to bed early (i.e., “Early to bed and early to rise…”). But there are some who function best in the late evening and are then essentially worthless until about 9:00 a.m.

- Some exposure to outside daylight is helpful. Melatonin is a natural hormone produced in the brain (pineal gland) that normally causes drowsiness and therefore stimulates sleep. Melatonin is slowly released from the brain following exposure to outdoor light – better than from indoor light. Therefore, living or working indoors all day is less conducive to a good night’s sleep. An hour (or two) outside each day is recommended.

-Some feel that it is important to maintain your bedroom for sleep only, without anything in it that might disturb sleep such as TV, telephone, night lights or even a ticking clock. Not everyone will agree with this, especially if you find reading a book or listening to soothing music helpful in getting to sleep.

If you feel that any of the above factors may be interfering with your sleep, the simple solution is to test the item in question. If, for example, you like a night cap before bed, have an extra good one each night for 7-10 days and then stop them completely for a similar period. Try to judge your sleep each morning on a scale of 1 to 10 and then compare the two periods.

Last but not least, snoring can be a major disturbance both to the snorer and the bed partner. This problem can often be corrected with simple devices or mechanisms to keep the snoring person from sleeping on his/her back, which aggravates snoring. In the worst cases, surgical procedures may be curative.

While we are on this sleepy subject, what about siestas? I don’t know exact numbers, but I believe I once read that nearly half the world’s population take afternoon naps. A siesta is supposed to be a potent energizer for the rest of the day if you can get into the routine. Several of our presidents have been afternoon nappers, and I’m told that many business and professional people in the U.S. are getting into the habit. You need not apologize to anyone if you enjoy a short afternoon nap.

By Dr. Kenneth Neldner, Vol. 10:1 (Jan 2003)

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Smoking

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Q  How does smoking specifically affect PXE? Please give details.

A  Narrowing of the coronary arteries can occur in patients with PXE. Patients who are affected develop cardiac symptoms including chest pain and even heart attacks. Narrowing of the coronary arteries can also occur as a result of arteriosclerosis. There are several risk factors, including smoking, that contribute to the development of accelerated arteriosclerosis. Since PXE patients are already prone to accelerated cardiac disease, it seems prudent to avoid activities that are likely to result in further arterial narrowing. The same rationale that applies to the coronary arteries should also apply to arteries in other parts of the body. For example, PXE patients develop intermittent claudication - pain that occurs in the posterior legs upon walking. This symptom is also caused by reduced arterial circulation and is exacerbated by cigarette smoking.

By Dr. Mark Lebwohl, Vol. 4:2 (Spring 1996)

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Stem Cell Therapy

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Q  Is human embryonic stem cell (HESC) research illegal?

A  No, it is not, but no federal funding will be given to a researcher to do HESC research on anything but the approved HESC lines. The generation of new HESC lines is not to be funded by any federal governmental agency; however, private, state and local funding could be used for HESC research. In fact, Harvard has set up a stem cell research institute to pursue HESC research through funding from individuals and private agencies, while California passed a bond issue to raise $3 billion for HESC research which should aid Stanford University's Institute of Cancer/Stem Cell Biology and Medicine in its efforts in HESC research.

By Dr. Gregg Clark, Vol. 11:1 (Jan 2005)

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Q  Will stem cell therapy be available soon for people suffering loss of sight from PXE?

A  Unfortunately, the use of stem cells for treating retinal disease is probably 10-15 years off in the future. Currently, tremendous strides are being made in animal models and hopefully this will translate to humans. Careful testing will be done with any promising therapies that are developed and this will take some time before they become available for public use.

By Dr. Gregg Clark, Vol. 11:1 (Jan 2005)

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Q  What do you think will be the first area of application of stem cell therapy (SCT) to humans?

A  Based on my literature review it seems that some impressive results are being achieved in treating heart disease in a number of small clinical trials, and therefore this seems a likely first application.

By Dr. Gregg Clark, Vol. 11:1 (Jan 2005)

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Surgery

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Q  My daughter has recurrent throat infections and enormous tonsils. Tonsillectomy has been advised, but I can't find a surgeon who will perform this procedure because the surgeons are worried there will be excessive bleeding since my daughter has PXE. Can my daughter undergo this procedure?

A  One of the reported complications of PXE is a tendency to bleed. There have been numerous reports of patients bleeding from the gastrointestinal tract, the uterus and the nose. Bleeding into the joints and bleeding into skin have also been reported. The bleeding arises as a result of abnormal elastic tissue in patients with PXE, not as a result of surgical procedures. Arteries contain elastic tissue which becomes calcified and cracks in patients with PXE, resulting in the bleeding complications which have been reported. In general, patients with PXE tolerate surgical procedures very well and heal well afterward. Intraoperative and postoperative bleeding have not been reported frequently and many of my patients have undergone surgical procedures without significant bleeding. There is therefore no reason that your daughter should not be able to undergo a tonsillectomy if that procedure is indicated.

By Dr. Mark Lebwohl, Vol. 3:1 (Jan 1995)

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Vaginal Infection

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Q  Are there any complaints from PXE women having problems with constant vaginal infections due to PXE problems with tissues or any PXE relation to it?

A  In general, the occurrence of vaginal infections is not more common in PXE. Vaginal yeast infections are a very common problem experienced by nearly all women at some time or another. In rare instances, PXE can involve the genital labial mucosa, but generally causes no particular problems.

By Dr. Kenneth Neldner, Vol. 3:2 (Spring 1995)

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Vitamins

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Q  I am a 40-year-old male who was diagnosed with PXE at age 8. I have been taking 4x400 IU of vitamin E daily since diagnosis. Is there any up-to-date information regarding the effectiveness of this therapy?

A  I have no objections to your taking one 400 IU capsule per day; in fact, I recommend it. But, you probably shouldn't take more, so your dose of 400 IU four times a day is too much if taken on a regular basis. There are very few reported side effects from high doses of vitamin E other than an interference with vitamin K, and therefore an effect on blood clotting. Despite this fact, since there is no known value to taking higher doses, there probably is no benefit from going beyond 400 IU per day.

By Dr. Kenneth Neldner, Vol. 5:1 (1997)



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