| H00288 | |
| H number | H00288 |
| Name | Familial Mediterranean fever; Familial hereditary periodic fever syndromes |
| Description | Familial Mediterranean fever (FMF) is the most prevalent hereditary periodic fever, affecting 0.1% in people of Mediterranean descent. It is also reported throughout the world's populations. FMF is an autosomal recessive disorder caused by missense mutations in the MEFV gene, which encodes the pyrin protein. Mutations in pyrin may lead to uncontrolled inflammation due to IL-1beta hyperactivation. FMF is characterized by recurrent inflammatory fevers with sterile peritonitis, pleuritis, arthritis, myalgia and erysipelas-like skin lesions. Renal amyloidosis is the most severe complication, leads to renal failure. These symptoms start before 20 years of age in about 90% of cases. |
| Category | Immune system disease |
| Network | nt06521(H00288) NLR signaling |
| Gene | MEFV [HSA:4210] [KO:K12803] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Canakinumab [DR:D09315] Colchicine [DR:D00570] |
| Comment | - |
| Other DBs | ICD-11: 4A60.0 ICD-10: E85.0 MeSH: D010505 OMIM: 249100 134610 |
| Reference | PMID:19339884 AUTHORS Guz G, Kanbay M, Ozturk MA TITLE Current perspectives on familial Mediterranean fever. JOURNAL Curr Opin Infect Dis 22:309-15 (2009) DOI:10.1097/QCO.0b013e328329d15e PMID:17911435 AUTHORS Bhat A, Naguwa SM, Gershwin ME TITLE Genetics and new treatment modalities for familial Mediterranean fever. JOURNAL Ann N Y Acad Sci 1110:201-8 (2007) DOI:10.1196/annals.1423.022 PMID:11464238 (MEFV) AUTHORS Touitou I TITLE The spectrum of Familial Mediterranean Fever (FMF) mutations. JOURNAL Eur J Hum Genet 9:473-83 (2001) DOI:10.1038/sj.ejhg.5200658 |