TY - JOUR
T1 - Unusual presentation of familial Mediterranean fever
T2 - Role of genetic diagnosis
AU - Nir-Paz, Ran
AU - Ben-Chetrit, Eldad
AU - Pikarsky, Eli
AU - Hassin, David
AU - Hasin, Yonathan
AU - Chajek-Shaul, Tova
PY - 2000
Y1 - 2000
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0000078698&partnerID=8YFLogxK
U2 - 10.1136/ard.59.10.836
DO - 10.1136/ard.59.10.836
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C2 - 11005788
AN - SCOPUS:0000078698
SN - 0003-4967
VL - 59
SP - 836
EP - 838
JO - Annals of the Rheumatic Diseases
JF - Annals of the Rheumatic Diseases
IS - 10
ER -