Familial Mediterranean fever: report of a large family, review of the literature, and discussion of the frequency of amyloidosis

Familial Mediterranean Fever is a rare disease which usually begins in childhood and occurs primarily among persons of Mediterranean ancestry. It is characterized by short, self-limited, febrile episodes that may occur alone or with inflammation of serosal surfaces. Some individuals may exhibit an erysipilas-like erythema, almost always on the lower extremities. These attacks are associated with considerable morbidity and may lead to unnecessary surgery, but this disease does not appear to be associated with an increased mortality, except in those individuals who develop amyloid nephropathy. For those patients death usually occurs below the age of 40 years although longer survival has been reported. This complication occurs frequently in Turks and Sephardic Jews, but only rarely in individuals of other ethnic origins. A rare patient may develop destructive changes in a joint that has been subjected to a protracted attack. Recent data indicate that either daily or intermittent colchicine will effectively reduce the severity and frequency of attacks; in some individuals these regimens have induced a complete remission. Preliminary data suggest that colchicine may also reduce the degree of nephropathy associated with amyloidosis. Diagnosis of this disease depends, in the absence of any objective markers, on the recognition of the symptoms in a susceptible individual. Despite the name of the disease, it may occur without a family history and in non-Mediterranean individuals. Most of the attacks, however, are associated with a rise in temperature although the fever spike may be more transient than the associated symptoms. Any individual with suggestive symptoms who is significantly disabled by the attacks should have a therapeutic trial of colchicine.