Unusual presentation of familial Mediterranean fever: Role of genetic diagnosis

Ran Nir-Paz, Eldad Ben-Chetrit, Eli Pikarsky, David Hassin, Yonathan Hasin, Tova Chajek-Shaul*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

27 Scopus citations


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.

Original languageAmerican English
Pages (from-to)836-838
Number of pages3
JournalAnnals of the Rheumatic Diseases
Issue number10
StatePublished - 2000
Externally publishedYes


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