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联合因子V和因子VIII缺乏症:一例报告

A Combined Factor V and Factor VIII Deficiency: A Case Report.

作者信息

Kalas Ammar, Hassan Abdelrahman, Alkhalifa Oumar, Dali Majd, Shaheen Fawaz

机构信息

College of Medicine, Sulaiman Al Rajhi University, Al Bukayriyah, SAU.

Internal Medicine, King Saud Hospital, Unayzah, SAU.

出版信息

Cureus. 2022 Jul 5;14(7):e26568. doi: 10.7759/cureus.26568. eCollection 2022 Jul.

DOI:10.7759/cureus.26568
PMID:35936154
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9351815/
Abstract

Factor V and VIII deficiency (F5F8D) is a rare coagulopathy; it's an autosomal recessive condition. This case report is about of 15-year-old unmarried Saudi female, who presented with a complaint of pain in the lower abdomen. Complete blood count and coagulation profile revealed low hemoglobin and prolongation of activated partial thromboplastin time (aPTT), prothrombin time (PT), and international normalized ratio (INR). The deficiency of factor V and factor VIII was confirmed with factor test revealing reduced activities of factor V and VIII Combined deficiency of factors V and VIII should be considered in differential diagnoses of patients with prolonged INR, PT, and aPTT. Medical management is reserved for those who present with significant bleeding.

摘要

因子Ⅴ和Ⅷ缺乏症(F5F8D)是一种罕见的凝血病,为常染色体隐性疾病。本病例报告讲述的是一名15岁未婚沙特女性,她因下腹部疼痛前来就诊。全血细胞计数和凝血指标显示血红蛋白水平低,活化部分凝血活酶时间(aPTT)、凝血酶原时间(PT)和国际标准化比值(INR)延长。通过因子检测证实因子Ⅴ和因子Ⅷ缺乏,该检测显示因子Ⅴ和Ⅷ活性降低。对于INR、PT和aPTT延长的患者,鉴别诊断时应考虑因子Ⅴ和Ⅷ联合缺乏的情况。对于出现严重出血的患者,应采取药物治疗。

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引用本文的文献

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Combined deficiency of factor V and factor VIII in a pediatric patient: a case report.一名儿科患者的凝血因子V和凝血因子VIII联合缺乏症:病例报告
J Med Case Rep. 2025 Apr 28;19(1):194. doi: 10.1186/s13256-025-05251-w.

本文引用的文献

1
Combined Factor V and Factor VIII Deficiency.联合因子V和因子VIII缺乏症。
Semin Thromb Hemost. 2009 Jun;35(4):390-9. doi: 10.1055/s-0029-1225761. Epub 2009 Jul 13.
2
Combined factor V and factor VIII deficiency in a Thai patient: a case report of genotype and phenotype characteristics.一名泰国患者的联合因子V和因子VIII缺乏症:基因型和表型特征的病例报告
Haemophilia. 2005 May;11(3):280-4. doi: 10.1111/j.1365-2516.2005.01092.x.
3
PARAPEMOPHILIA (CONGENITAL FACTOV V DEFICIENCY).副血友病(先天性因子V缺乏症)。
Can Med Assoc J. 1965 May 1;92(18):979-81.