Familial Mediterranean Fever: How to Interpret Genetic Results? How to Treat? A Quarter of a Century After the Association with the Mefv Gene

BATU AKAL E. D., BAŞARAN H. Ö., BİLGİNER Y., ÖZEN S.

CURRENT RHEUMATOLOGY REPORTS, cilt.24, sa.6, ss.206-212, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 24 Sayı: 6
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1007/s11926-022-01073-7
  • Dergi Adı: CURRENT RHEUMATOLOGY REPORTS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Sayfa Sayıları: ss.206-212
  • Anahtar Kelimeler: Familial Mediterranean fever, MEFV, Genetic, Diagnosis, Treatment, PERIODIC FEVER, COLCHICINE, DIAGNOSIS, INFLAMMATION, AMYLOIDOSIS, PHARYNGITIS, MUTATION, CRITERIA, DISEASE
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Purpose of Review To provide an up-to-date approach to diagnosis and management of FMF patients. Recent Findings Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease and prototype monogenic autoinflammatory recurrent fever syndrome. Although it is one of the well-known autoinflammatory disorders, evaluations in the etiopathogenesis and genetics of the disease have shown that FMF is more complex than previously known. Since the number of reported MEFV variants increased, evaluating the genetic test results has become more challenging. Here, we suggest a roadmap for clinicians to facilitate their decisions regarding diagnosis, treatment, and follow-up in FMF patients with different genotype-phenotype combinations. The correct interpretation of genetic test results is crucial for timely diagnosis, appropriate treatment, and follow-up of FMF patients.