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老年患者中甲型血友病的诊断

Recognition of hemophilia A in an elderly patient.

作者信息

Cáceres W, McCurdy S

机构信息

Department of Hematology-Oncology, Veterans Administration Medical Center, San Juan, Puerto Rico 00927-5800.

出版信息

Bol Asoc Med P R. 1998 Apr-Jun;90(4-6):85-7.

PMID:9866274
Abstract

Hemophilia A (classic hemophilia) is an hereditary coagulation disorder characterized by the absence, severe deficiency, or defective functioning of plasma coagulation factor VIII. It is inherited in an X-linked recessive manner and occurs almost exclusively in males. The first manifestations of bleeding are usually first noted as a young child since most of the patients with hemophilia A have a profound deficiency of factor VIII (less than 1% of normal value). However, in mild hemophilia (5-25% of normal level of factor VIII) the condition may escape detection with many of the patients developing bleeding only after trauma or surgery. Hemophilia A is the result of a recent genetic mutation in approximately one third of patients, for whom often there is no family history of a bleeding disorder. Here we present an elderly male patient with spontaneous bleeding in an extremity that has coagulation studies consistent with the diagnosis of hemophilia A. Physicians must be aware that mild hemophilia can present in this unusual manner and should consider this possibility in patients that have unexplained bleeding even if there is no clear personal or family history of an hereditary coagulation disorder.

摘要

甲型血友病(经典血友病)是一种遗传性凝血障碍疾病,其特征是血浆凝血因子VIII缺乏、严重不足或功能缺陷。它以X连锁隐性方式遗传,几乎仅发生于男性。出血的最初表现通常在幼儿期首次被注意到,因为大多数甲型血友病患者的因子VIII严重缺乏(低于正常值的1%)。然而,在轻度血友病(因子VIII水平为正常水平的5%-25%)中,病情可能未被发现,许多患者仅在创伤或手术后才出现出血。约三分之一的甲型血友病患者是近期基因突变的结果,他们通常没有出血性疾病的家族史。在此,我们报告一名老年男性患者,其肢体出现自发性出血,凝血检查结果与甲型血友病的诊断相符。医生必须意识到轻度血友病可能以这种不寻常的方式出现,对于即使没有明确的个人或家族遗传性凝血障碍病史但有不明原因出血的患者,也应考虑这种可能性。

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