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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

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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.
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Keywords: factor VII deficiency; factor VII mutation; myocardial infarction; recombinant factor VIIa

Document Type: Research Article

Affiliations: 1: Department of Hematology 2: Department of Cardiovascular Medicine 3: Department of Gastroenterology, Tokushima Prefectural Central Hospital 4: Department of Medicine and Bioregulatory Sciences 5: Department of Medical Education, Graduated School of Health Biosciences, The University of Tokushima, Tokushima, Japan

Publication date: December 1, 2015

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