Presentation of familial Mediterranean fever in a heterozygous MEFV mutation triggered by immunosuppressive therapy for myelodysplastic syndrome.
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.
Sasaki
Ko
K
Department of Hematology, Dokkyo Medical University School of Medicine, 880 Kitakobayashi, Mibu-machi, Shimotsuga-gun, Tochigi, 321-0293, Japan.
Tahara
Toshiyuki
T
Department of Gastroenterology, Saiseikai Utsunomiya Hospital, 911-1 Takebayashi, Utsunomiya, Tochigi, 321-097, Japan.
Mitani
Kinuko
K
Department of Hematology, Dokkyo Medical University School of Medicine, 880 Kitakobayashi, Mibu-machi, Shimotsuga-gun, Tochigi, 321-0293, Japan. kinukom-tky@umin.ac.jp.
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
D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin