Abstract
Objective Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of fever and peritonitis, pleuritis, arthritis or an erysipelaslike skin disorder. The disease may present at any age, more than 80% of patients being symptomatic by the age of 20 yr. Its main long-term complication is amyloid A (AA) amyloidosis, a severe manifestation with poor prognosis. Mutations in the MEFV gene, on chromosome 16, is encoding a protein named as pyrin. We aim to analyze clinical characteristics, subclinical inflammation, and carried MEFV mutation in siblings with FMF.
Highlights
Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of fever and peritonitis, pleuritis, arthritis or an erysipelaslike skin disorder
The disease may present at any age, more than 80% of patients being symptomatic by the age of 20 yr
Mutations in the MEFV gene, on chromosome 16th, is encoding a protein named as pyrin
Summary
Clinical and subclinical features and MEFV mutation distribution in of FMF patients’ siblings. Z Gunduz1*, B Sozeri[1], A Esen[1], A Pac Kısaarslan[1], H Kılıc[1], R Dusunsel[1], H Poyrazoglu[1], M Dundar[2], I Dursun[1]. From 8th International Congress of Familial Mediterranean Fever and Systemic Autoinflammatory Diseases Dresden, Germany. From 8th International Congress of Familial Mediterranean Fever and Systemic Autoinflammatory Diseases Dresden, Germany. 30 September - 3 October 2015
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