Unusual presentation of familial Mediterranean fever: role of genetic diagnosis. Issue 10 (1st October 2000)

• Record Type: Journal Article
• Authors: Nir-Paz, Ran; Ben-Chetrit, Eldad; Pikarsky, Eli; Hassin, David; Hasin, Yonathan; Chajek-Shaul, Tova
• Is Part Of: Annals of the rheumatic diseases. Volume 59:Issue 10(2000)
• Page Start: 836
• Page End: 838
• Publication Date: 2000-10-01
• Subjects: fever of unknown origin -- familial Mediterranean fever; Rheumatism -- Periodicals; 616.723005
• DOI: 10.1136/ard.59.10.836
• Languages: English
• ISSNs: 0003-4967

Abstract

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.