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Familial mediterranean fever – An important disease in a globalised world

Review article
Authors Per Wekell
Anna Karlsson
Anders Fasth
Stefan Berg
Published in Läkartidningen
Volume 113
ISSN 1652-7518
Publication year 2016
Published at Institute of Medicine, Department of Rheumatology and Inflammation Research
Institute of Clinical Sciences, Department of Pediatrics
Language sv
Links www.ncbi.nlm.nih.gov/entrez/query.f...
Subject categories Pediatrics, Immunology in the medical area

Abstract

Familial Mediterranean fever - an important disease in a globalised world Familial Mediterranean fever (FMF) is characterized by recurrent febrile attacks during 1/2-3 days associated with peritonitis, pleuritis and arthritis. FMF is the most common monogenic autoinflammatory disease in the world, with over 100 000 affected individuals. It is particularly common in individuals with an origin in the eastern Mediterranean Basin, where the disease has a prevalence of 100-200 per 100 000. The gene for FMF (MEFV) was identified in 1997 with an autosomal recessive inheritance; however, a significant proportion (≈25%) of clinical patients lack two mutations. MEFV codes for the protein pyrin, whose exact function still needs to be defined. The most serious complication of FMF is amyloid A amyloidosis, in particular renal amyloidosis. FMF is efficiently treated with daily doses of colchicine resulting in an almost normal life expectancy and amyloidosis confined to non-compliant patients. In today's globalized world we need to adapt to a new context that includes inherited conditions, which have historically been uncommon in our part of the world. One of these conditions is FMF, that should primarily be suspected in individuals with an origin in the eastern Mediterranean Basin and recurrent attacks of fever.

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