Ezgi Deniz Batu1, Ozge Basaran1, Yelda Bilginer1, Seza Ozen2. 1. Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, 06100, Turkey. 2. Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, 06100, Turkey. sezaozen@gmail.com.
Abstract
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.
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.
Authors: Y Shinar; L Obici; I Aksentijevich; B Bennetts; F Austrup; I Ceccherini; J M Costa; A De Leener; M Gattorno; U Kania; I Kone-Paut; S Lezer; A Livneh; I Moix; R Nishikomori; S Ozen; L Phylactou; L Risom; D Rowczenio; T Sarkisian; M E van Gijn; M Witsch-Baumgartner; M Morris; H M Hoffman; I Touitou Journal: Ann Rheum Dis Date: 2012-06-01 Impact factor: 19.103
Authors: Yong Hwan Park; Elaine F Remmers; Wonyong Lee; Amanda K Ombrello; Lawton K Chung; Zhao Shilei; Deborah L Stone; Maya I Ivanov; Nicole A Loeven; Karyl S Barron; Patrycja Hoffmann; Michele Nehrebecky; Yeliz Z Akkaya-Ulum; Erdal Sag; Banu Balci-Peynircioglu; Ivona Aksentijevich; Ahmet Gül; Charles N Rotimi; Hua Chen; James B Bliska; Seza Ozen; Daniel L Kastner; Daniel Shriner; Jae Jin Chae Journal: Nat Immunol Date: 2020-06-29 Impact factor: 25.606