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Doc: Familial Mediterranean fever is genetic condition

Keith Roach
To Your Health

Dear Dr. Roach: After an intestinal virus, I had a sed rate of 110 and a high white blood count. I had severe joint pain and was diagnosed with reactive arthritis. I was put on steroids and colchicine. I’m still taking the colchicine because my doctor said I have familial Mediterranean fever, and the colchicine is helping. I am a full-blooded Italian. She also said I have the HLA-B27 antigen. Two months later, my sed rate is back to normal, but I’ll be taking colchicine for another month and then try to wean off of it. She said familial Mediterranean fever is very rare.

Have you heard of it?


Dear C.C.: Familial Mediterranean fever is not so rare, especially in people whose ancestry comes from the Mediterranean, including Sephardic Jews, Armenians, Turks, North Africans, Arabs, Greeks and Italians. It also can be found in people who have no known ancestry from these regions, but the rate is much higher in groups that do. In Iraqi Jews, for example, 1 out of 4 people carries the gene for FMF, called MEFV.

HLA-B27, a gene associated with several inflammatory diseases, including reactive arthritis, is found in about half of people with FMF.

The major symptoms of FMF are fever and pain. The pain usually is in the abdomen, but also can be in the chest or joints. Lab findings show high markers of inflammation, such as the C-reactive protein and the erythrocyte sedimentation rate (called the “sed rate” or “ESR”).

FMF attacks last one to three days, and in between people feel entirely normal. Colchicine is used to prevent attacks, and it is effective in most people.

The major long-term risk of FMF is a condition called amyloidosis, which is the deposition of abnormal proteins into key organs — in FMF, this especially targets the kidney. Colchicine appears to help prevent amyloidosis in FMF.

Dear Dr. Roach: I am a 69-year-old woman who was diagnosed three months ago with a 90-percent-blocked left renal artery, which was stented. Because my blood pressure was difficult to control following surgery, I was prescribed amlodipine and metoprolol. Approximately 10 years ago, I was diagnosed with a 65 percent to 70 percent blocked right carotid artery. The vascular surgeon who stented my renal artery advised that I also had a 60 percent to 70 percent blocked SMA, but said that he did not want to address this situation until I began having symptoms (abdominal pain after eating). I am a former smoker, exercise regularly, eat a balanced diet and am slim. I was diagnosed with elevated blood pressure and cholesterol, and I dutifully saw my physician twice per year and took medications as prescribed. I am very confused — did my medications fail? Was I not prescribed a large enough dosage? My primary care physician and vascular surgeon don’t answer these questions, although my vascular surgeon did state that even though I quit smoking many years ago, “the damage was done.” It seems to me that if I have these artery issues, I may be headed for stroke, which scares me. Your advice will be greatly appreciated.


Dear A.: Atherosclerosis, the disease that causes blockages in arteries, is the leading cause of death in this country. Although we have good treatments, the treatments we have aren’t perfect. They can slow down the progression, and in some cases even start to reverse it, but we don’t have a cure. You have had at least three partially blocked arteries: the internal carotid in your neck, the renal artery to your kidney and the superior mesenteric artery (SMA) going to the pancreas and intestines.

I understand why you are concerned about stroke. A stroke is caused by death of brain cells, usually from not enough oxygen getting to them from a blocked blood vessel. Control of blood pressure and cholesterol reduce risk of stroke. Aspirin or other medications like it reduce risk of stroke in high-risk people.

It sounds like you and your doctor have done everything right — you quit smoking and took your medications. These definitely reduced risk of further blocked arteries, including those in your heart and brain.

Email questions to ToYourGoodHealth@med.cornell.edu.