Unusual presentation of familial Mediterranean fever: role of genetic diagnosis.
OBJECTIVE
To describe the role of molecular analysis in the diagnosis of an unusual presentation of familial Mediterranean fever (FMF).


METHODS
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.


CONCLUSIONS
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.
Nir-Paz
R
R
Department of Medicine, Hadassah University Hospital, Jerusalem.
Ben-Chetrit
E
E
Pikarsky
E
E
Hassin
D
D
Hasin
Y
Y
Chajek-Shaul
T
T
D003937:Diagnosis, Differential; D010505:Familial Mediterranean Fever / Q000150:complications / Q000235:genetics*; D005260:Female; D005335:Fever of Unknown Origin / Q000209:etiology; D020022:Genetic Predisposition to Disease; D006720:Homozygote; D006801:Humans; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D016896:Treatment Outcome