title: Presentation of familial Mediterranean fever in a heterozygous MEFV mutation triggered by immunosuppressive therapy for myelodysplastic syndrome.
abstract: Familial Mediterranean fever (FMF) is a recessively inherited disease characterized by recurrent episodes of systemic inflammation. The cause of this disease is the mutations affecting both the alleles of MEFV gene. We describe here a case in a heterozygous MEFV mutation complicated with myelodysplastic syndrome (MDS). Clinical symptoms and the effectiveness of colchicines in this patient are typical for FMF. The first attack of FMF in this patient was observed during immunosuppressive therapy for MDS. This case suggests the possibility that certain immunosuppressants may trigger FMF attack in asymptomatic cases carrying MEFV heterozygous mutation.
authors.affiliation: Department of Hematology, Dokkyo Medical University School of Medicine, 880 Kitakobayashi, Mibu-machi, Shimotsuga-gun, Tochigi, 321-0293, Japan.
authors.forename: Ko
authors.initials: K
authors.lastname: Sasaki
authors.affiliation: Department of Gastroenterology, Saiseikai Utsunomiya Hospital, 911-1 Takebayashi, Utsunomiya, Tochigi, 321-097, Japan.
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Tahara
authors.affiliation: Department of Hematology, Dokkyo Medical University School of Medicine, 880 Kitakobayashi, Mibu-machi, Shimotsuga-gun, Tochigi, 321-0293, Japan. kinukom-tky@umin.ac.jp.
authors.forename: Kinuko
authors.initials: K
authors.lastname: Mitani
mesh_terms: D000483:Alleles; D003598:Cytoskeletal Proteins / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000209:etiology* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007165:Immunosuppression Therapy / Q000009:adverse effects*; D008297:Male; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000150:complications / Q000235:genetics / Q000628:therapy*; D000071198:Pyrin; D055815:Young Adult
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin