title: Congenital dysfibrinogenemia coincidentally diagnosed at the onset of chronic myelogenous leukemia.
abstract: A 34-year-old man was referred to our hospital for leukocytosis and fundal hemorrhage. Peripheral blood and coagulation tests showed increases in cells at all stages of the neutrophilic series and a low level of fibrinogen (Fbg). Chronic myelogenous leukemia (CML) was diagnosed, and nilotinib was administered. During the clinical course of CML treatment, plasma Fbg levels continued to be low, but the patient showed neither hemorrhagic nor thrombotic complications. Fbg analysis showed normal antigen levels and low activity levels, which indicated dysfibrinogenemia. Genetic analysis revealed a heterozygous gene mutation (γ308AAT→AAG), a mutation which was also found in the patient's mother. Asymptomatic patients with dysfibrinogenemia have a low risk of hemorrhage in daily life and do not require treatment. However, in those undergoing major surgery or in serious accidents, replacement therapy may be required. When the cause of low Fbg levels is unknown, dysfibrinogenemia or fibrinogen deficiency should be considered. Even asymptomatic patients may benefit from more detailed immunologic and genetic analyses.
authors.affiliation: Department of Hematology, Nagano Red Cross Hospital.
authors.forename: Takehiko
authors.initials: T
authors.lastname: Kirihara
authors.forename: Yuko
authors.initials: Y
authors.lastname: Fujikawa
authors.forename: Wataru
authors.initials: W
authors.lastname: Takeda
authors.forename: Taro
authors.initials: T
authors.lastname: Kurihara
authors.forename: Keijiro
authors.initials: K
authors.lastname: Sato
authors.forename: Toshimitsu
authors.initials: T
authors.lastname: Ueki
authors.forename: Yuki
authors.initials: Y
authors.lastname: Hiroshima
authors.forename: Masahiko
authors.initials: M
authors.lastname: Sumi
authors.forename: Mayumi
authors.initials: M
authors.lastname: Ueno
authors.forename: Naoaki
authors.initials: N
authors.lastname: Ichikawa
authors.forename: Shinpei
authors.initials: S
authors.lastname: Arai
authors.forename: Keisuke
authors.initials: K
authors.lastname: Soya
authors.forename: Nobuo
authors.initials: N
authors.lastname: Okumura
authors.forename: Hikaru
authors.initials: H
authors.lastname: Kobayashi
mesh_terms: D000328:Adult; D000347:Afibrinogenemia / Q000175:diagnosis / Q000235:genetics*; D005340:Fibrinogen / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*
chemical_list: D005340:Fibrinogen