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Familial Mediterranean fever (FMF) is an inherited disorder of the inflammatory response characterized by recurring attacks of fever, accompanied by intense pain in the abdomen, chest, or joints. Attacks usually last 12–72 hours, and can occasionally involve a skin rash. Kidney disease is a serious concern if the disorder is not treated. FMF is most prevalent in people of Armenian, Sephardic-Jewish, Arabic, and Turkish ancestry.
FMF could be described as a disorder of "inappropriate" inflammation. That is, an event that in a normal situation causes a mild or unnoticeable inflammation might cause a severe inflammatory response in someone with FMF. Certain areas of the body are at risk for FMF-related symptoms. A serosa is a serous (fluid-producing) membrane that can be found inside the abdominal cavity (peritoneum), around the lungs (pleura), around the heart (pericardium), and inside the joints (synovium). The symptoms of FMF are due to inflammation of one or more of the serosal membranes (serositis). Thus, FMF is also sometimes called recurrent polyserositis.
During an attack, large numbers of neutrophils, a type of white blood cell, move into the affected areas causing painful inflammation and fever. These episodes may be accompanied by a skin rash or joint pain. In a few cases, chronic arthritis is a problem. Amyloidosis is a potentially serious condition in which proteins called amyloids are mistakenly produced and deposited in organs and tissues throughout the body. Left untreated, amyloidosis often leads to kidney failure, which is the major long-term health risk in FMF.
In most cases, the attacks of fever and pain are first noticed in childhood or adolescence. The interval between these episodes may be days or months, and is not predictable. However, during these intervals people with FMF typically lead normal lives. It is not entirely clear what brings on an attack, but people with FMF often report mild physical trauma, physical exertion, or emotional stress just prior to the onset of symptoms. Treatment for FMF involves an oral medication called colchicine, which is highly effective for the episodes of fever and pain, as well as for amyloidosis and the kidney disease that can result from it.
FMF is most common in certain ethnic groups from the eastern Mediterranean region, but cases in other ethnic groups in other parts of the world are increasingly being reported. FMF is also known by many other names. They include: recurrent hereditary polyserositis, benign paroxysmal peritonitis, familial paroxysmal polyserositis, paroxysmal polyserositis, familial recurrent polyserositis, periodic fever, periodic amyloid syndrome, periodic peritonitis syndrome, Reimann periodic disease, Reimann syndrome, Siegel-Cattan-Mamou syndrome, and Armenian syndrome.
Author Info: Scott J. Polzin MS, CGC, The Gale Group Inc., Gale, Detroit, Gale Encyclopedia of Genetic Disorders Part I, 2002
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