Familial Mediterranean Fever

Ali Riza Odabas, MD, Ramazan Cetinkaya, MD, Yilmaz Selcuk, MD, Habib Bilen, MD

Disclosures

South Med J. 2002;95(12) 

In This Article

Abstract and Introduction

Background: The pathogenesis of familial Mediterranean fever (FMF) is unknown, and since no specific laboratory test is yet available, the diagnosis of FMF remains clinical. The purpose of this study was to review clinical characteristics of patients with FMF.
Methods: A total of 96 patients with FMF were evaluated either retrospectively (for those diagnosed before 1997) or prospectively (for those after 1997).
Results: The records of 54 male and 42 female patients were studied. All patients were Turks. Family history was positive in 72 patients (75%). Involved site was peritoneum in 73 (76%), joints in 65 (68%), and pleura in 16 (17%). Febrile myalgia occurred in 3 patients (3%), and erysipelas-like skin lesions were observed in 2 (2%). Fever was found in 93 patients (97%). Reactive systemic (AA) amyloidosis was found in 38 patients (40%).
Conclusions: Diagnostic problems persist despite increased understanding of the pathogenesis of FMF. Amyloidosis, the most important complication of FMF, is often seen.

Familial Mediterranean fever (FMF) is an autosomal recessive hereditary disease that primarily affects populations surrounding the Mediterranean basin. It is characterized by recurrent attacks of fever and peritonitis, pleuritis, arthritis, or erysipelas-like skin disease. It is often complicated by reactive systemic (AA) amyloidosis.[1] The pathogenesis of FMF is unknown, and in the absence of any confirmatory test, diagnosis has hitherto rested on characteristic clinical features and exclusion of other pathologic findings. Diagnosis can be especially difficult in patients without the typical ethnic background or in those with unusual clinical manifestations, a poor response to colchicine, or no family history. About 25% of affected patients have a form of renal AA amyloidosis. The amyloidosis usually progresses over a period of years to renal failure, and almost all deaths attributable to FMF result from this complication.[1,2] Otherwise, the disease is compatible with normal survival, but the quality of life is seriously impaired by the frequent and incapacitating episodes of inflammation.[3] The only effective treatments are prophylactic colchicine, which reduces the frequency of attacks and can prevent amyloidosis, and transplantation for renal failure. The purpose of this analysis was to review clinical characteristics of patients with FMF seen in our facility.

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