Familial Mediterranean fever is a hereditary disorder caused by mutations of the MEFV gene (in exon 10). Mode of inheritance is autosomal dominant as well as recessive. In those cases in which only one missense mutation in exon 10 was identified and also a modifying missense variant in exon 3, 5, and 8 ruled out a contribution of mutations in other genes or somatic mutations are discussed. Clinically the disease is characterized by recurrend inflammation (polyserositis) and progressive amyloidosis accompaied by progressive renal failure.
Clnically two types can be distinguished. Typ 1 is characterized by inflammatory bursts with serositis while type 2 is merely domiated by chronic damage due to amyloidosis.
The treatement is with anti-inflammatory drugs. While colchicine is used to prevent attacks, NSAR are better to treat akute exacerbations.
Inflammation | |
Inflammation is predominantly a recurring serositis. |
Pyrin-associated autoinflammatory disease | ||||
Acute febrile neutrophilic dermatosis | ||||
Familial Mediterranean fever | ||||
MEFV | ||||
SAA1 | ||||
TNFRSF1A | ||||
1. |
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OMIM.ORG article Omim 249100 |
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Orphanet article Orphanet ID 342 |
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Wikipedia article Wikipedia EN (Familial_Mediterranean_fever) |