NAPE Q & A

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By Kenneth. H. Neldner, MD

Question I read that bone marrow transplants were being used in sickle cell anemia and also that there was some overlap between sickle cell anemia and PXE. Therefore, might bone marrow transplants help PXE? - West virgina

Answer The quick answer is no. The only overlap lies in the fact that a rare patient with sickle cell anemia (SCA) will develop angioid streaks in their eyes that may resemble the angioid streaks seen in PXE. However, the streaks in SCA are due to iron accumulation in the retina and not calcium as it is in PXE.

In brief, SCA is a severe, hereditary form of anemia, most common in African Americans. It gets its name from the fact that their red blood cells are sickle shaped (like a last quarter moon) and not round, so they cannot carry oxygen as a normal red blood cell. This causes a great variety of problems in most all organs of the body as their hemoglobin falls due to the anemia. Pain is often a major symptom. There is no known cure, but blood transfusions are very helpful during crisis periods. SCA patients have no skin lesions as in PXE.

Now, getting back to the original question, the thought is that if bone marrow cells (which make our red blood cells) could be transfused into the SCA patient and 'take over' their bone marrow where they would then make good normal red blood cells that it might help or even cure SCA.

We can only wish and hope that there might some day be something that could be injected into the PXE patient that would shut off the disease process and prevent the complications of PXE. In my opinion, this will have to come out of genetics studies. But even though we now know the genes that cause PXE, we still don't know what these genes do to cause the elastic fibers to take on extra calcium.

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