Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors Presenting as Postoperative Haemorrhage in A Syrian Adolescent: A Likely VKCFD Type 2 Phenotype

一名叙利亚青少年术后出血表现为遗传性维生素K依赖性凝血因子联合缺乏症:可能是VKCFD 2型表型

阅读:1

Abstract

Hereditary combined deficiency of vitamin K-dependent clotting factors (VKCFD) is a rare autosomal recessive disorder characterized by reduced activity of factors II, VII, IX, and X despite normal vitamin K levels. We report a 17-year-old Syrian female who presented with impaired wound healing and haemorrhagic discharge following cervical rib surgery. Laboratory evaluation revealed markedly prolonged prothrombin time and activated partial thromboplastin time both corrected on mixing studies, and selective deficiency of vitamin K-dependent factors. Vitamin K levels were normal, excluding acquired causes. The patient experienced recurrent bleeding episodes including haematuria and epistaxis, successfully managed with plasma and recombinant activated factor VII. The absence of skeletal abnormalities, mild bleeding phenotype, and delayed onset suggest a VKCFD type 2 presentation. This case highlights the importance of early recognition, differentiation from acquired coagulopathies, and targeted replacement therapy to prevent life threatening haemorrhage. LEARNING POINTS: Consider vitamin K-dependent clotting factors deficiency in unexplained prolonged prothrombin time/activated partial thromboplastin time with normal vitamin K and combined factor deficiencies.Early recognition prevents catastrophic bleeding; vitamin K and factor replacement are lifesaving.Internists play a pivotal role in differentiating inherited from acquired coagulopathies.

特别声明

1、本页面内容包含部分的内容是基于公开信息的合理引用;引用内容仅为补充信息,不代表本站立场。

2、若认为本页面引用内容涉及侵权,请及时与本站联系,我们将第一时间处理。

3、其他媒体/个人如需使用本页面原创内容,需注明“来源:[生知库]”并获得授权;使用引用内容的,需自行联系原作者获得许可。

4、投稿及合作请联系:info@biocloudy.com。