title: The role of MEFV mutations in the concurrent disorders observed in patients with familial Mediterranean fever.
abstract: OBJECTIVE
  This study aimed to investigate the frequency in which familial Mediterranean fever (FMF) coexists with other diseases and determine whether Mediterranean fever(MEFV)gene mutations are involved in such coexistence.
  
  
  METHODS
  In total, 142 consecutive patients with FMF investigated forMEFVmutation were enrolled in this study [Female: 87; Male: 55, mean age 32±12 years (11-62)]. All the patients were questioned for the presence of concurrent disorders, and the medical records of these patients were revised retrospectively. A previous diagnosis of inflammatory disorder other than FMF was considered true if it met the relevant criteria.MEFVmutations were divided into 2 groups, namely M694V and its subgroup (homozygous or heterozygous) (Group I) and others (Group II). Compound heterozygosity for M694V mutation was included in Group II to form a homogeneous group for Group I. Group I and Group II were compared according to phenotypical features. The presence ofMEFVmutation was investigated in exons 2, 3, 5, and 10 by the multiplex-PCR reverse hybridization method.
  
  
  RESULTS
  Concomitant disorders were found in 17 of 73 patients with FMF (23%) in Group I and 5 of 56 patients (8.9%) in Group II (p=0.04). Concomitant disorders in Group I were as follows: 7 cases of amyloidosis, 2 cases of Behcet's disease (BD), 4 cases of ankylosing spondylitis (AS), 1 case of antiphospholipid syndrome, 1 case of Henoch-Schonlein purpura (HSP), 1 case of combination of psoriatic arthritis, HSP, and membranoproliferative glomerulonephritis, and 1 case of AS and amyloidosis. In Group II, the following disorders were found: 1 case of amyloidosis, 1 case of BD, 1 case of AS, 1 case of ulcerative colitis, and 1 case of vitiligo.
  
  
  CONCLUSIONS
  The presence of M694V mutation may predispose patients with FMF to developing other inflammatory disorders.
authors.affiliation: Department of Internal Medicine, Eskişehir Osmangazi University School of Medicine, Eskişehir, Turkey.
authors.forename: Sabri
authors.initials: S
authors.lastname: Güncan
authors.affiliation: Division of Rheumatology, Department of Internal Medicine, Eskişehir Yunus Emre State Hospital, Eskişehir, Turkey.
authors.forename: N Şule Y
authors.initials: NŞ
authors.lastname: Bilge
authors.affiliation: Division of Rheumatology, Department of Internal Medicine, Eskişehir Osmangazi University, Eskişehir, Turkey.
authors.forename: Döndü Üsküdar
authors.initials: DÜ
authors.lastname: Cansu
authors.affiliation: Division of Rheumatology, Department of Internal Medicine, Eskişehir Osmangazi University, Eskişehir, Turkey.
authors.forename: Timuçin
authors.initials: T
authors.lastname: Kaşifoğlu
authors.affiliation: Division of Rheumatology, Department of Internal Medicine, Eskişehir Osmangazi University, Eskişehir, Turkey.
authors.forename: Cengiz
authors.initials: C
authors.lastname: Korkmaz
keywords: Behcet’s disease; Familial Mediterranean fever; amyloidosis; spondylarthropathy