May 2000, Volume 8, Issue 1

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, and I thank them for their updates.  Please keep me informed from time to time about Brian’s overall progress.

A   - There is no known explanation for the fact that about 10 to 15% of all individuals with PXE will have a gastric hemorrhage at some time in their life.  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 had 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.

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 red 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 wrinkle.

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

Q   -  L.W. asks 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 in 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.

Q   -  Peggy asks 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 unchartered 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.

P.S.  Peggy, would you please send me a 25-year follow-up on our little experiment?

1999, Volume 7, Issue 2

Q   -  B.S. of Florida asks about joint aches and pains and wonders if they are 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.
 

April 15, 1999, Volume 7, Issue 1

Q   -  J.W. of Wisconsin, states that her 26-year-old sister was recently diagnosed with PXE and cannot find a doctor who has any knowledge of, or experience with PXE.  She asks for the name of a doctor nearby with some knowledge of PXE.

A   -  At the risk of seeming redundant or repetitive, your letter to NAPE is discussed because it represents one of the most common problems experienced by our members; i.e., “Where can I find a doctor who has any experience with PXE?”  The simplest answer is, “It ain’t easy.”

In defense of the doctors, it is difficult enough to keep up with the enormous body of literature and new information on common disorders, to say nothing of the hundred of rare conditions like PXE.  So it often comes down to the fact that you must help educate your doctor by first giving him/her one of the NAPE brochures that outlines the basic facts about PXE and the major lab tests to get, plus a summary of the basic treatment recommendations.  (An information packet for your doctor is sent to you with membership confirmation.  You should contact the NAPE office if you need more.)  Once your doctor knows this much about PXE, s/he will be able to read more about it and be far more able to help you through any problems or complications.

It is difficult to make recommendations regarding the choice of a particular specialist.  Stay with a trusted family physician if you have one.  An internal medicine specialist would have more training in the cardiovascular aspects of PXE.  Dermatologists will have seen more PXE than the other doctors and would be the best to make the initial diagnosis because of their familiarity with the highly characteristic skin lesions, but they will have relatively little experience with the eye or cardiovascular (CV) aspects of the disorder.

An ophthalmologist (preferably a retinal specialist) will be familiar with the retinal manifestations of PXE but have little or no experience with the skin and CV aspects.  The bottom line of all this probably would be for you to stay with your family doctor or internist and ask to be referred to the dermatologist for any problems with diagnosis, and to the retinal specialist for regular eye checks and any eye problems.

If your sister follows the recommendations outlined in the brochure, she will be doing more than most and will be reducing the complications of PXE to a minimum over the long run.  Be sure to maintain a membership in NAPE and receive the quarterly newsletter which contains the best updated information on PXE available.  We have a list of very knowledgeable medical consultants in all areas of concern for PXE and can forward any specific questions on to the appropriate consultant.  All of this comes at no cost to you, so you can’t beat the price!

Do not hesitate to contact the NAPE office if you need another medical packet for one of the doctors you see on a regular basis. 

1998, Volume 6, Issue 4

Q   -     Several individuals have asked whether it is 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!

1998, Volume 6, Issue 3

Q   -  Both L.B. of Akron, NY and B.W. of Wichita, KS ask about calcium intake for people with PXE, and want to know if there is a test to determine if a person has the PXE gene.

A   - 1)  The question of dietary calcium in PXE is difficult.  In my studies of 100 individuals with PXE (published in 1988) I found that those who had ingested a high calcium diet; i.e., one rich in dairy products during childhood and adolescent years, had more frequent and severe complications later in life.  On the basis of these observations, I recommend a slightly low calcium intake throughout all of life – in the range of 600 to 800 mg. calcium per day.  The RDA for calcium is 800 mg. per day.

The next problem arises in menopausal aged women who are being told to take high doses of calcium to prevent or help alleviate osteoporosis.   It is well known that of the three factors in preventing or alleviating osteoporosis; i.e., calcium, estrogen supplementation and exercise, high calcium is the least important and by itself can never prevent osteoporosis no matter how much is taken.  So, my recommendation for menopausal-aged women with PXE is to stay at the RDA recommendation of 800 mg per day and concentrate on the other two factors.

2)  There is, thus far, no blood test for a PXE gene or genetic carrier stats.  We are getting close, as we have discovered the chromosome that carries the PXE gene.  In the next few years we hope to find the exact gene and then we should have a test.

Q   -     L.K. has PXE, central vision loss and cardiac problems, but her most distressing problem is with difficulty in swallowing foods which tend to “stick in the back of her throat.”  She wonders if this could be PXE related.

A   -  Dysphagia is the medical word for difficult swallowing.  There are several causes for dysphagia, but PXE is not one of them.  Other rare conditions such as dermatomyositis, scleroderma and hiatal hernias can cause dysphagia.  Therefore, a thorough medical exam is needed to make an accurate diagnosis and hopefully find an effective treatment.  There is a new medication call Propulsid that may be helpful to stimulate swallowing if taken before meals.  It must be prescribed by your local physician who will make sure that you are not taking other medications that would cause adverse reactions if taken with Propulsid.

1998, Volume 6, Issue 1

Q   -  C.P., whose mother was a participant in the research study I conducted, writes us from Indiana asking 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 because they were one of the 60 ‘2-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 (or genes).  At present such tests are complex, time consuming and, therefore, expensive.  I will ask Dr. Struk to write an article for our next newsletter regarding his thoughts on a blood test to diagnose PXE.

Since this has been a NAPE affiliated project from the beginning, when such tests do become available, I will make every effort to grant our members first priority.

Q   -     R. R. from Atlanta, Georgia, asks for a referral to a PXE knowledgeable physician in Atlanta and in Oregon.  This is a good question that I will convert into a general question.  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.

1997 Issue, Volume 5, Issue 4

Q   -  R.M. of Dallas asks if someone has had 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 RH’s 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 or risk factors for RH’s 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 RH’s.  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, 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 a headache, 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’s, therefore, a good idea to wear good ultraviolet protection dark glasses or coated lenses when you are outside for any prolonged period – unless you live in Alaska in the wintertime.

-   The value of vitamins and minerals in preventing complications of PXE is difficult to prove, or disapprove.  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 last 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 RH’s.  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 or slightly below the recommended allowances of 800 mg. per day.  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.

So, Mr. M., if you follow all of these recommendations, you will be doing about all you can to prevent a RH.

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

A   -  Again, it is highly variable since RH’s 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 RH’s in both eyes can still read quite well with the help of specially tailored visual aids.

Q   -     What kind of jobs can someone hold who has had RH’s in both eyes?

A   -  Again, this cannot be answered in a word.  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 RH’s 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.  NAPE is working on a project to help members with visual problems get the proper examinations that help determine which specific glasses or instrument would be best for them.  Watch for future newsletters for more on this.

Questions for Dr. Lawrence A. Yannuzzi

1996, Volume 4, Issue 3

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 preexisting scarring within the eye, small areas of bleeding may be unnoticeable, even if they involve the center of the macula or the fovea.

Q   -  I have a black “funny-looking” spider in the middle of my vision on my left side.  It has been there for at least five years and my retinologist says not to worry about it.  However, lately, it is really getting in the way when I try to read, especially if it is on an exceptionally white page.  I don’t remember this thing being such a nuisance before, and now it follows my vision wherever I am looking.

A   -  A black floater in the central vision of your eye may be associated with changes in the vitreous or a jelly mass that occupies the posterior 2/3 of the eye.  In many people, the attachment between the base of the vitreous and the surface of the retina will release spontaneously and this is usually an innocuous and uneventful occurrence.  It is sometimes associated with abnormalities that warrant detection and treatment.  If you have had it for many years, and if you have been examined periodically by your retinal specialist, it is likely to be a visual annoyance rather than a significant clinical factor.  Interventional treatment is generally not indicated.

Q   -  Someone told me that there is a natural “blank spot” that can be identified when using an Amsler grid.  They say that this is a normal “spot” in both sides?  Is this true?  If it is, how do I know the difference between this and something caused by my PXE?

A   -  Yes, there is a natural “blank spot” or “blink spot,” and it can even be detected on an expanded modified Yannuzzi card or the Amsler grid.  It is located on the left side of fixation for the left eye and the right side for the right eye.  Changes in self-assessment testing as well as involvement of the central portion of the grid are most significant in PXE.

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.

Q   -  A friend of mine told me about a research study on macular degeneration patients using the drug thalidomide.  Do we know the results of this research?  If so, how will this effect people with PXE?  Is there a connection in the treatment of macular degeneration and the macular degeneration caused by PXE?

A   -  Yes, thalidomide is currently being used as an anti-angiogenic medication in age-related macular degeneration.  This oral medication is known to cause regression of blood vessels in some experimental models.  To date, there is no convincing evidence that it is safe and effective in age-related disease or in PXE.  The connection between age-related and PXE disease stems from the mechanism of scarring, specifically the proliferation of blood vessels and the associated leaking, bleeding, and scarring.

Winter, 1996

Q   -     How often should people with PXE visit their physician to check the progression of their PXE?  Is it different for different specialties 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.

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 are no definite blood tests for PXE.  As 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.

Q   -  If I 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 the 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.

Q   -  What is alpha II – interferon?  Has it been studied as a drug that would be helpful for loss of vision from PXE?  What about the use of large doses of steroids when hemorrhaging in the eye occurs?

A   -  Preliminary data presented at a recent ophthalmology meeting suggested that there is no benefit to use of alpha II interferon in patients with age related macular degeneration, a condition that has many similarities to the visual changes of PXE.  Large doses of steroids are also of no proven benefit in patients who have hemorrhages in the eye, despite isolated reports of individual patients benefiting from steroids.  Moreover, steroids can have severe side effects and often make blood vessels more fragile and likely to bleed.  Two new treatments currently being examined for the prevention of retinal hemorrhage include low dose radiation and thalidomide.  Data on these treatments will hopefully be available in the next few years.

Q   -  With the new changes in “Americans With Disability 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. 

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 await further study.

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.

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 larger 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.

Questions for  Berthold Struk, M.D.

Q   -  R.G. asks if there is a genetic test available for the public?

A   -  To the best of my knowledge, there is no genetic testing for PXE commercially available.  If you are interested to be tested you could go the route via a genetics study.

Q   -  My daughter’s baby is due in three weeks.  We hear a lot about saving the baby’s umbilical cord 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 hope 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.

          I hope this helps.  I wish I could join you in Minneapolis, but my current work rotation does not permit time away.  Hopefully, I can be with you at a future meeting.       

Spring, 1996

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 that contribute to the development of accelerated arteriosclerosis including smoking. 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.

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.

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.

Q   -     I know it is important to balance other nutrients with calcium, in the diet – such as boron, magnesium, manganese, potassium, silicon – for the efficient uptake and utilization in maintaining bones, connective tissue, cardiovascular and nervous system.  If these were balanced would it be less likely for calcium to be deposited where it doesn’t belong?  The calcium issue seems like a “catch – 22” for PXE patients.

A   -     Because patients with PXE develop calcification of elastic tissue, it was natural for investigators to look at possible roles of calcium in the development of PXE.  The data is not entirely clear.  There is some evidence to suggest that individuals who ingest large amounts of calcium early in life may have worse PXE later in life, but that clearly does not hold true for everyone.  The data concerning calcium ingestion for adults is even less clear.  Nevertheless, many clinicians, taking care of patients with PXE have advised patients to not overdo it with calcium supplements and excessive dietary calcium.  The data on other nutrients has been studied even less.  For the time being, the only suggestion that has been made is to avoid markedly exceeding the recommended daily calcium requirements.

Q   -     Where the PXE lesions are on my skin it seems paper thin.  I also bruise very easily.  Is the skin that is affected by PXE compromised in some way?

A   -  There are several abnormalities that can occur in PXE-affected skin.  Occasionally, calcium can penetrate through the epidermis, a condition that has been called “perforating PXE.”  Easy bruising has also been reported in patients with PXE, although it is not specifically limited to lesional PXE skin.  In general, PXE skin is not “thinner” than the skin of other people.  In fact, patients with PXE can undergo surgical procedures and heal as well as people with PXE.  Occasionally, however, PXE will turn up in surgical scars.

 Q   - In had two small growths (one on my neck and one on my back) removed.  When they were biopsied, the dermatologist said they were PXE tissue.  I also had a polyp removed in my stomach.  The same thing happened.  When it was biopsied they said it was PXE tissue.  Is this common?  I now have small growths like the ones on my neck and back that are occurring under my lower eyelids.  Could these also be PXE growths?

A   -  PXE can be identified in any skin containing elastic tissue.  On occasion, PXE is identified by coincidence when an unrelated skin lesion such as a mole is removed.  Skin tags on the eyelids and neck are not caused by PXE, and it is unusual to find the changes of PXE in skin tags.

January 1995, Volume 3, Issue 1

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 definite 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.

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.

Questions for Kenneth H. Neldner, MD,

Texas Tech University Health Sciences Center,

Lubbock, TX 

July 1994, Volume 2, Issue 4

Q   -     My sister and I have fibromyalgia.  We feel much of our pain is from that rather than from the PXE.  Since no evidence of calcification in blood vessels shows on x-rays (and others don’t complain of pain as we do), do you think there is a connection between the PXE and fibromyalgia or is it coincidence that both of us have both and they are altogether separate entities?

A   -     Fibromyalgia indicates pain in muscles, tendons and ligaments but not in the joints (which would be called arthritis or arthralgias).  The low back, neck, chest and thighs are commonly involved in fibromyalgia.  The discomfort may be induced or aggravated by exposure to dampness or cold, trauma, poor sleep or mental stress.  There is no known relationship to PXE, however, PXE patients do get Intermittent Claudication (IC) which causes pain in the legs after exertion such as fast walking or jogging, which is then rapidly relieved by rest.  You should therefore be sure that your symptoms are those of fibromyalgia and not the intermittent claudication of PXE.

            Aspirin and Ibuprofen group of pain relievers should be avoided by individuals with PXE who have had recent (or threatened) retinal hemorrhages or bleeding from the stomach.  These medications cause thinning of the blood and therefore an increased tendency to bleeding.  Tylenol does not have such an effect and is OK to take.

 Questions for Dr. Mark Lebwohl,

The Mount Sinai Medical Center, New York, NY

July 1994, Volume 2, Issue 4

Q   -     Can post menopausal women take calcium or estrogen?

A   -     Patients with PXE develop calcification of elastic tissue in the eyes, blood vessels and skin.  There is some evidence that ingestion of high calcium diets early in life can lead to exacerbation of PXE.  While calcium supplementation later in life has not been shown to exacerbate PXE, there is still enough concern that many physicians caring for PXE patients recommend limiting calcium intake to approximately 800 mg per day, the recommended daily dietary allowance.  Estrogens have also been shown to cause a worsening of PXE in some patients, although others have taken oral estrogens without difficulty.  As a matter of routine, I do not suggest estrogens for post menopausal women with PXE.