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血友病罕见病例:获得性VIII因子缺乏症

A Rare Case of Hemophilia: Acquired Factor VIII Deficiency.

作者信息

Winn Soe P, Mohsin Fizza, Peeke Stephen

机构信息

Internal Medicine, Maimonides Medical Center, Brooklyn, USA.

Hematology and Oncology, Maimonides Medical Center, Brooklyn, USA.

出版信息

Cureus. 2024 Jun 14;16(6):e62407. doi: 10.7759/cureus.62407. eCollection 2024 Jun.

DOI:10.7759/cureus.62407
PMID:39011224
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11248456/
Abstract

Unlike hereditary hemophilia, acquired hemophilia is a rare life-threatening bleeding disorder that occurs in a person who has no personal or family history of bleeding episodes. It usually presents with new-onset subcutaneous/joint/muscle bleeding causing ecchymoses and hematomas, hematuria, GI bleeding, retroperitoneal bleeding, or rarely acute intracranial hemorrhage in elderly individuals. The diagnosis involves assessing prolonged activated partial thromboplastin time (aPTT) and conducting mixing studies after ruling out lupus anticoagulants and interfering substances such as heparins. Management consists of controlling hemostasis using recombinant activated factor VII (rFVIIa) and activated prothrombin complex concentrates (aPCC), along with eradicating autoantibodies against factor VIII from the body system using immunosuppressive therapies. Due to the risk of uncontrolled bleeding in individuals who were previously normal, delayed diagnoses and recurrences are not uncommon, potentially resulting in unfavorable outcomes.

摘要

与遗传性血友病不同,获得性血友病是一种罕见的危及生命的出血性疾病,发生在没有个人或家族出血发作史的人身上。它通常表现为新出现的皮下/关节/肌肉出血,导致瘀斑和血肿、血尿、胃肠道出血、腹膜后出血,或在老年人中罕见的急性颅内出血。诊断包括评估活化部分凝血活酶时间(aPTT)延长,并在排除狼疮抗凝物和肝素等干扰物质后进行混合试验。治疗包括使用重组活化因子VII(rFVIIa)和活化凝血酶原复合物浓缩物(aPCC)控制止血,以及使用免疫抑制疗法从身体系统中消除针对因子VIII的自身抗体。由于既往正常个体存在出血失控的风险,延迟诊断和复发并不罕见,可能导致不良后果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5483/11248456/aa0bcbd24848/cureus-0016-00000062407-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5483/11248456/aa0bcbd24848/cureus-0016-00000062407-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5483/11248456/aa0bcbd24848/cureus-0016-00000062407-i01.jpg

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A Rare Case of Hemophilia: Acquired Factor VIII Deficiency.血友病罕见病例:获得性VIII因子缺乏症
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本文引用的文献

1
Cyclophosphamide vs rituximab for eradicating inhibitors in acquired hemophilia A: A randomized trial in 108 patients.环磷酰胺与利妥昔单抗治疗获得性血友病 A 患者抑制物:108 例患者的随机试验。
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Blood. 2022 Nov 3;140(18):1983-1992. doi: 10.1182/blood.2022016873.
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Haematologica. 2020 Jul;105(7):1791-1801. doi: 10.3324/haematol.2019.230771. Epub 2020 May 7.
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Do proteolytic antibodies complete the panoply of the autoimmune response in acquired haemophilia A?在获得性血友病 A 中,蛋白水解抗体是否构成了自身免疫反应的全部内容?
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