著者

村上 元孝 松田 保 恩地 一彰 万見 新太郎 梅田 俊彦 西野 哲夫 平丸 三樹 高瀬 雅子 横山 鉄夫

出版者

一般社団法人 日本血液学会

雑誌

臨床血液 (ISSN:04851439)

巻号頁・発行日

vol.11, no.3, pp.388-396, 1970

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Two families of congenital factor VII deficiency were described.<br>The propositus of the first family was 35-year-old female, who was admitted for anemia. Spontaneous epistaxis, limited to her youth, was main hemorrhagic symptom. The patient delivered two normal children without unusual bleeding. On admission, the physical examination revealed no abnormalities except for the presence of iron deficiency anemia. Results of liver function tests were normal. Coagulation data confirmed the diagnosis of pure factor VII deficiency. Her factor VII complex level was 5% of normal and factor X level was 100%. There was no history of bleeding in her family. However, her daughter was discovered to have factor VII deficiency. Her factor VII complex level was 27% and factor X level was 75%. Factor VII levels of father, three half siblings, husband and son of the propositus were within normal limits.<br>The propositus of the second family was 25-year-old female, who was admitted complaining of spontaneous nose bleeding, gum bleeding, subcutaneous hemorrhage and menorrhagia. The patient was hospitalized for right oophorectomy at the age af 22. The hematoma in the right ovary was found, however, no unusual bleeding was noted either during surgery or in the postoperative period. On admission, she appeared healthy except for a few ecchymoses. Liver function chemistries were normal. Laboratory data demonstrated factor VII deficiency with increased vascular fragility. Her factor VII complex level was 17% and factor X level was 80%. Mixture of this patient's plasma with that of the propositus of the first family did not result in shortening of the long one-stage prothrombin time, proving an identical deficiency in these patients. The family history revealed that the patient's paternal grandfather were siblings. One brother of the propositus, his daughter and grandmother on the father's side of the porpositus had bleeding tendency. Neither of her parents nor any other family members had any bleeding episodes. Coagulation studies on the brother of the propositus revealed that he had factor VII deficiency. His factor VII complex level was 12% and factor X level was 105%. Factor VII level of the other family members could not be measured.