NAPE Q & A

click to listen (1.8 MB)

By Kenneth. H. Neldner, MD

Question An inquiry came to NAPE via phone 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.

Answer 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's 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.

If you have additional questions, please call or email us.

______________________________

Question I am a male, 47 years old, and have PXE. I have recently been diagnosed with low bone density. There is no explanation for this, other than PXE. Is there any evidence to suggest that the two may be related?

Answer Your question regarding bone density and osteoporosis is not easy to answer because there are still many things to be learned about the disorder.

Osteoporosis is a very common condition and is by no means restricted to PXE, although the disorder is as common in PXE as it is in the general population. As a dermatologist, I do not personally treat osteoporosis, but do try to keep up with the medical literature on the subject. I'll try to summarize a few thoughts.

The bone density measuring machines are the 'gold standard' for the diagnosis. There is one portable machine that measures only bone density in the heel bone. It is highly unreliable and should be avoided.

Bone density should be measured in the wrist, lower spine and the hips. The machine then creates a complicated print out (as you have received) and makes a colored graph to show normal values according to age and shows if you have osteopenia or frank osteoporosis. It is then important to know if the tests are getting slowly worse or holding steady, so it is important to repeat the tests at 6-month intervals. If you are 'holding steady' in the osteopenia range, I wouldn't recommend any of the new medications. If slowly worse with time, then consider the most recent and most potent of the 5 or 6 classes of meds being used. These range from various estrogens, to Fosamax, Actonel, Evista, Miacalcium injection and nasal spray.

The cause of osteoporosis is basically unknown, but relates to estrogens, exercise and dietary calcium. Of the three the least important is dietary calcium, i.e. you cannot increase your dietary calcium intake and expect it to go to make stronger bones. In my opinion, exercise plays a strong role in the development and in the treatment of osteoporosis. Any type of exercise that puts mild stress on the bony skeleton is helpful. Walking, (jogging if possible), mild weight lifting, exercise machines, etc. are useful. Walking downstairs is good and if done with some degree of vigor, will produce a mild jarring stress on the hip joints and prevents calcium loss.

Oral Calcium supplements are, as stated, the least helpful treatment. We all need calcium for life, but more than the recommended daily amount (RDA) of 800 mg daily or up to 1000-1200 mg for older individuals is not helpful. Calcium absorption and utilization in the body is a very complicated process and is poorly understood.

______________________________

If you have any questions you would like answered in upcoming issues of PXE Awareness, please write to us at NAPE 8760 Manchester Rd. St. Louis, MO 63144-2724

Or email us at NAPEStLouis@sbcglobal.net

Also, if you have had any unusual experiences with PXE - good or bad - we would love to hear from you. It is important for us to learn from each others' experiences, since most physicians know so little about PXE. Write to us or call us and we'll write your story.