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一例获得性甲型血友病合并先天性乙型血友病

A Case of Acquired Hemophilia A and Congenital Hemophilia B.

作者信息

Fortier Julia C, Pang Shiyi S, Amofa-Ho Sam, Harris Neil S, Zumberg Marc

机构信息

College of Medicine, University of Florida, Gainesville, USA.

Internal Medicine, University of Florida, Gainesville, USA.

出版信息

Cureus. 2022 Oct 15;14(10):e30324. doi: 10.7759/cureus.30324. eCollection 2022 Oct.

Abstract

Congenital hemophilia B is a rare, inherited X-linked bleeding disorder caused by a deficiency of factor IX (FIX). Acquired hemophilia A is a rare, acquired bleeding disorder which presents as new onset bleeding in older adults due to the development of autoantibodies against factor VIII (FVIII). This report describes the management of a patient with congenital hemophilia B and acquired hemophilia A. We highlight the limitations in maintaining FVIII levels using factor replacement alone and the need for escalating treatment such as rituximab and prednisone in patients with acquired hemophilia A. This case demonstrates the importance of continuing to pursue alternative diagnoses when existing ones do not explain the full clinical picture and laboratory data is inconclusive.

摘要

先天性血友病B是一种罕见的、遗传性X连锁出血性疾病,由凝血因子IX(FIX)缺乏引起。获得性血友病A是一种罕见的获得性出血性疾病,由于针对凝血因子VIII(FVIII)的自身抗体的产生,在老年人中表现为新发出血。本报告描述了一名先天性血友病B合并获得性血友病A患者的治疗情况。我们强调了仅使用凝血因子替代疗法维持FVIII水平的局限性,以及对获得性血友病A患者使用利妥昔单抗和泼尼松等强化治疗的必要性。该病例表明,当现有诊断无法解释全部临床症状且实验室数据不确定时,继续寻求其他诊断的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adf6/9662256/c98717427a4b/cureus-0014-00000030324-i01.jpg

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