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Not Every Tall, Skinny Person Has Marfan’s

Dear Dr. Roach: My husband is 50 years old; 6 feet, 6 inches tall; and weighs 185 pounds. He exercises regularly. Last weekend he woke up with some pressure in his chest. He has a history of heart disease in his family, and we went to the emergency room. One of the first things the doctor asked was, “Do you have Marfan’s syndrome?” We’d never heard of Marfan’s syndrome, so we said “no.” When the cardiologist examined my husband, again one of the first things mentioned was Marfan’s syndrome.

We looked it up, and it was a huge shock to read that my husband has almost all the characteristics. He has had yearly checkups, which include echocardiograms. He played sports in high school and college, which required physicals and EKGs. My question is, Why wouldn’t any of the doctors in 50 years of regular visits know about or mention the possibility of his having this syndrome? —A.

Answer: Marfan’s syndrome is a rare disease of collagen — a protein that provides most of the structure for the soft tissues in our body. People with Marfan’s syndrome tend to be tall and thin, with disproportionately long arms and fingers. In addition to the cardiac complications of mitral and/or aortic valve prolapse and dilated aorta, other associated findings of Marfan’s include an abnormally high, arched palate; a hollow or funnel chest; and abnormalities of the eyes, including nearsightedness and abnormal position of the lens. If all the signs are present, it is usually pretty easy to make the diagnosis — once you think about it.

However, Marfan’s is variable, and its symptoms can overlap in appearance with just regular tall, skinny people. As a tall, skinny person, I was asked repeatedly if I had Marfan’s syndrome — which I don’t.

It used to be said that the life expectancy of Marfan’s patients was 35 years, but with the realization that some people have a more benign presentation, along with advances in medical treatment, the life expectancy is much improved.

Dear Dr. Roach: I was recently diagnosed with polymyalgia rheumatica. As a child, I had rheumatic fever. I’m wondering if there is any relationship. As a 73-year-old, I’m otherwise healthy and active. The prednisone prescribed for this condition has given me my life back. — C.G.

Answer: Polymyalgia rheumatica is an uncommon, but by no means rare, condition, usually affecting people older than 50. It causes pain and stiffness, typically much worse in the morning and affecting the shoulders, neck and upper arms more than other joints.

It has nothing whatsoever to do with rheumatic fever, which fortunately, really IS rare now, except for the word “rheumatic,” which just refers to “joints,” since both conditions cause joint symptoms.

Polymyalgia rheumatica often is not diagnosed in a timely fashion, as symptoms can begin slowly, and both patients and doctors can think it is just ordinary joint pain or early arthritis. A blood test for inflammation (either the ESR or C-reactive protein) is usually but not always very abnormal. Treatment with moderate doses of prednisone, a powerful steroid anti-inflammatory, confers a remarkable and almost immediate benefit.

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.