Sammanfattning
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.