Three family members with familial Mediterranean fever carrying the M694V mutation showed different clinical presentations.
Familial Mediterranean fever (FMF) is an inherited disease characterized by recurrent episodes of fever and serositis. FMF is caused by mutations in the MEFV gene that encodes pyrin/marenostrin. The 5 most frequent mutations are M694V, M694I, V726A, M680I and E148Q. Here, we reported 3 FMF patients, a sister and two brothers, who have the same M694V mutation with different clinical presentations. While the sister presented with abdominal pain, one of the brothers presented with erysipelas-like erythema and the other brother with bilateral sacroiliitis. Here, we report the different clinical courses of FMF in a family carrying the same M694V mutation.
Department of Rheumatology, Ataturk Education and Research Hospital, Turkey. sukranerten@yahoo.com
Sukran
S
Erten
Cahide
C
Erzurum
Alpaslan
A
Altunoglu
D015746:Abdominal Pain / Q000235:genetics; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004886:Erysipelas / Q000473:pathology; D004890:Erythema / Q000473:pathology; D010505:Familial Mediterranean Fever / Q000235:genetics* / Q000473:pathology; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D000071198:Pyrin; D058566:Sacroiliitis / Q000235:genetics; D035781:Siblings
D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin