Unusual presentation of familial Mediterranean fever: role of genetic diagnosis
- 1 October 2000
- journal article
- case report
- Published by Elsevier in Annals of the Rheumatic Diseases
- Vol. 59 (10) , 836-838
- https://doi.org/10.1136/ard.59.10.836
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.Keywords
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