title: Factor VII Tokushima: the first case of factor VII Cys22Gly with the development of myocardial infarction in the proband receiving recombinant factor VIIa replacement therapy.
abstract: An 81-year-old man was referred to our department because of suspected factor VII (FVII) deficiency. His FVII activity was under 1%, whereas the FVII activity levels of his son and granddaughter were 65 and 109%, respectively. The nucleotide at position 3886 of his FVII gene was homozygous for G. A single T to G substitution results in the replacement of wild-type Cys at residue 22 by Gly. His son was heterozygous for G and T at position 3886, whereas his granddaughter was homozygous for wild-type T. These results suggest that he was homozygous for FVII Cys22Gly. He underwent radiofrequency ablation (RFA) for hepatocellular carcinoma, receiving 20 μg/kg of recombinant FVIIa prior to RFA and 10 μg/kg of recombinant FVIIa twice after RFA. He showed no bleeding tendency; however, a myocardial infarction was diagnosed and percutaneous coronary intervention was performed.
authors.affiliation: aDepartment of Hematology bDepartment of Cardiovascular Medicine cDepartment of Gastroenterology, Tokushima Prefectural Central Hospital dDepartment of Medicine and Bioregulatory Sciences eDepartment of Medical Education, Graduated School of Health Biosciences, The University of Tokushima, Tokushima, Japan.
authors.forename: Toshio
authors.initials: T
authors.lastname: Shigekiyo
authors.forename: Etsuko
authors.initials: E
authors.lastname: Sekimoto
authors.forename: Hironobu
authors.initials: H
authors.lastname: Shibata
authors.forename: Shuji
authors.initials: S
authors.lastname: Ozaki
authors.forename: Takanobu
authors.initials: T
authors.lastname: Okumura
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Fujinaga
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Shibata
authors.forename: Ken-ichi
authors.initials: K
authors.lastname: Aihara
authors.forename: Masashi
authors.initials: M
authors.lastname: Akaike
mesh_terms: D000369:Aged, 80 and over; D001483:Base Sequence; D001780:Blood Coagulation Tests; D003029:Coagulants / Q000627:therapeutic use*; D005168:Factor VII Deficiency / Q000150:complications / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D015942:Factor VIIa / Q000627:therapeutic use*; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009203:Myocardial Infarction / Q000150:complications / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D011994:Recombinant Proteins / Q000627:therapeutic use
chemical_list: D003029:Coagulants; D011994:Recombinant Proteins; C103587:recombinant FVIIa; D015942:Factor VIIa