Are genes responible for reader’s AMD?

DEAR DR. ROACH: When my daughter was pregnant, she was tested for blood abnormalities and was told she has factor V Leiden and PAI-1 4G/5G. She suggested that I be tested, because with my firstborn I had an emergency C-section for hemorrhaging due to placenta abruption, and with her I had pelvic thrombophlebitis. I did go to a hematologist, who said he felt I should not be tested because at 65 I am no longer of child-bearing age and had no problems during any post-birth surgeries, and current hospital procedures would be certain to monitor for blood clots, etc. Recently I went to the eye doctor and was diagnosed with wet age-related macular degeneration, as well as having mild cataracts. I think these concerns have to do with blood vessels bleeding behind the eye. I wonder if either of the two blood abnormalities contributes to the wet macular degeneration, which I understand is the worse of the two types and is far less common than the dry. I was told not to take vitamins at this time, but I did buy some vitamins designed for the eyes to see if perhaps this will keep things status quo. Can you please give me your thoughts on this? I am really disheartened about my vision concerns. — Anon. ANSWER: Yours is a complex story with two main issues: Do you need to be tested for Factor V Leiden and PAI-1 4G/5G; and how should your macular degeneration be treated?

Both factor V Leiden and plasminogen activator inhibitor 4G/5G are variants of normal genes, and their presence increases risk of abnormal blood clotting. This is particularly the case in pregnancy. Given your daughter’s genes and your history of blood clots in the pelvic veins, I think it’s pretty likely that you have at least one of these conditions. However, even if you do, the recommendation is clear that it should not be treated with an anticoagulant, so I agree with your hematologist that testing isn’t necessary in your case.

How does macular degeneration fit in? Simplified, the abnormalities in the blood vessels behind the eye seem to have to do with genetic differences in the inflammatory pathways, particularly in a gene called complement factor H. People with abnormalities in this gene are predisposed to inflammation in the eye. Inflammation leads to high levels of a molecule called VEGF-A, which is responsible for causing the abnormal blood vessels. Whether you have factor V Leiden or PAI-1 4G/5G shouldn’t affect the progression or treatment of AMD.

Treatment of wet-type AMD usually consists of inhibitors to VEGF (a prescription medicine) and a particular regimen of antioxidant vitamins. I don’t know why your eye doctor isn’t starting you on treatment. I suggest that you get a second opinion.

The booklet on macular degeneration explains this common eye ailment. Readers can order a copy by writing: Dr. Roach — No. 701, 628 Virginia Dr., Orlando, FL 32803. Enclose a check or money order (no cash) for $4.75 U.S./$6 Can. with the recipient’s printed name and address. Please allow four weeks for delivery.

DEAR DR. ROACH: I have noticed that the medical profession uses a number of standard words in different ways. For example, “negative” is usually good, and “positive” often is bad news. — N.M.G.

ANSWER: It’s true that we in medicine use words differently than they are used conversationally. “Negative” and “positive” are examples: We would like the biopsy to be negative for cancer, and if the HIV test is positive, that’s not good. Doctors also use the word “complaint” to describe the patient’s chief concern; it’s not that we think people are being annoying.

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Dr. Roach regrets that he is unable to answer individual letters, but will incorporate them in the column whenever possible. Readers may email questions to ToYourGoodHealth@med.cornell.edu or request an order form of available health newsletters at 628 Virginia Dr., Orlando, FL 32803. Health newsletters may be ordered from www.rbmamall.com.