Authors' recommendations: Familial Mediterranean fever (FMF) is an autoinflammatory disease that occurs predominantly in Mediterranean and Middle Eastern populations. FMF typically has onset in childhood or adolescence and is characterized by recurrent episodes of fever in combination with peritonitis (inflammation of the peritoneum), pleuritis (inflammation of the lining of the lungs and chest), and arthritis, that result in abdominal, chest, and joint pain, respectively. In addition, FMF patients may develop a characteristic erysipelas-like skin rash (a skin infection characterized by red, swollen, painful, and warm skin underneath). Untreated patients may also develop amyloidosis (deposition of amyloid protein in body tissues) over time, which most often affects the kidneys and may lead to renal failure. FMF episodes, which vary in severity, often last from 12 to 72 hours and occur every few weeks to every few months in untreated patients. Treatment of FMF typically involves the antiinflammatory agent colchicine, which alleviates symptoms and helps prevent attacks and amyloidosis in most FMF patients. Kidney transplantation may be used to treat FMF patients with renal failure secondary to amyloidosis. FMF is caused by variants in the Mediterranean fever gene (MEFV) located on chromosome 16 at band p13.3. The MEFV gene encodes a protein called pyrin (also known as marenostrin), which is believed to help regulate inflammation through its role in the innate immune system. FMF is considered an autosomal recessive disorder, which means that variants in both copies of the gene are needed in order to cause disease; however, it is estimated that up to 30% of clinically diagnosed FMF patients have only one detectable MEFV gene variant, and families with autosomal dominant inheritance (i.e., caused by a variant in just one copy of the gene) have been reported. The MEFV carrier rate may be as high as 1 in 7 among the most commonly affected populations (i.e., Sephardic and Ashkenazi Jewish, Turkish, Armenian, and Arab populations), and twelve specific sequence alterations (p.Glu148Gln in exon 2; p.Pro369Ser in exon 3; p.Phe479Leu in exon 5; and p.Met680Ile(G>C), p.Met680Ile(G>A), p.Ile692del, p.Met694Val, p.Met694Ile, p.Lys695Arg, p.Val726Ala, p.Ala744Ser, and p.Arg761His in exon 10) account for the majority of disease-causing variants.

Project Status: Completed

Year Published: 2013

URL for published report: The report may be purchased from:http://www.hayesinc.com/hayes/crd/?crd=14755

English language abstract: An English language summary is available

Publication Type: Not Assigned

Country: United States

Organisation Name: HAYES, Inc.

Contact Address: 157 S. Broad Street, Suite 200, Lansdale, PA 19446, USA. Tel: 215 855 0615; Fax: 215 855 5218

Contact Name: saleinfo@hayesinc.com

Contact Email: saleinfo@hayesinc.com

Copyright: 2013 Winifred S. Hayes, Inc