Abstract
OBJECTIVE—To describe the role of molecular analysis in the diagnosis of an unusual presentation of familial Mediterranean fever (FMF). CASE REPORT—Two patients presenting with prolonged fever without signs and symptoms of serositis are described. FMF was diagnosed by genetic analysis, which disclosed that both patients were homozygous for the M694V mutation of the Mediterranean fever (MEFV) gene. CONCLUSION—Molecular analysis of FMF should complement the investigation of patients with fever of unknown origin. This test enables a definite diagnosis of the disease and may promote the diagnosis and treatment of patients with an unusual or incomplete clinical picture of FMF.
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Figure 1 .
Endomyocardial biopsy specimen immunohistochemically stained with antibodies against amyloid A. The figure shows circumferential interstitial deposition of amyloid A surrounding individual myocytes. Original magnification ×200.