Familial Mediterranean fever

Onen F.

RHEUMATOLOGY INTERNATIONAL, cilt.26, sa.6, ss.489-496, 2006 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 26 Sayı: 6
  • Basım Tarihi: 2006
  • Doi Numarası: 10.1007/s00296-005-0074-3
  • Dergi Adı: RHEUMATOLOGY INTERNATIONAL
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.489-496
  • Anahtar Kelimeler: Familial Mediterranean fever, BONE-MARROW-TRANSPLANTATION, PERIODIC FEVER, MEFV MUTATIONS, POLYARTERITIS-NODOSA, INTERFERON-ALPHA, COLCHICINE TREATMENT, MOLECULAR DIAGNOSIS, GENOTYPE-PHENOTYPE, GENE POLYMORPHISMS, ACTIVATING ADAPTER
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Familial Mediterranean fever (FMF) is the most frequent hereditary inflammatory disease characterized by self-limited recurrent attacks of fever and serositis. It is transmitted in an autosomal recessive pattern and affects certain ethnic groups mainly Jews, Turks, Arabs, and Armenians. FMF is caused by mutations in MEFV gene, which encodes pyrin. This protein is expressed mainly in myeloid/monocytic cells and modulates IL-1 beta processing, NF-kappa B activation, and apoptosis. A mutated pyrin probably results in uncontrolled inflammation. The most devastating complication of FMF is amyloidosis, leading to chronic renal failure. M694V homozygocity, male gender and the alpha/alpha genotype of serum amyloid A1 gene are the currently established risk factors for development of amyloidosis. Daily colchicine is the mainstay of the therapy for the disease, resulting in complete remission or marked reduction in the frequency and duration of attacks in most patients. It is also effective in preventing and arresting renal amyloidosis.