Hematology department, Hospital General "B" del ISSSTE, Ciudad Juárez, Chih. Mexico.
Hematology department, Centro Médico Nacional 20 de Noviembre, ISSSTE, Mexico City. Mexico.
Gac Med Mex. 2021;157(Suppl 1):S1-S35. doi: 10.24875/GMM.M21000463.
Hemophilia is a hemorrhagic disorder with a sex-linked inherited pattern, characterized by an inability to amplify coagulation due to a deficiency in coagulation factor VIII (hemophilia A or classic) or factor IX (hemophilia B). Sequencing of the genes involved in hemophilia has provided a description and record of the main mutations, as well as a correlation with the various degrees of severity. Hemorrhagic manifestations are related to levels of circulating factor, mainly affecting the musculoskeletal system and specifically the large joints (knees, ankles, and elbows). This document is a review and consensus of the main genetic aspects of hemophilia, from the inheritance pattern to the concept of women carriers, physiopathology and classification of the disorder, the basic and confirmation studies when hemophilia is suspected, the various treatment regimens based on infusion of the deficient coagulation factor as well as innovative factor-free therapies and recommendations for the management of complications associated with treatment (development of inhibitors and/or transfusion-transmitted infections), or secondary to articular hemorrhagic events (hemophilic arthropathy). Finally, relevant reviews of clinical and treatment aspects of hemorrhagic pathology characterized by acquired deficiency of FVIII secondary to neutralized antibodies named acquired hemophilia.
血友病是一种伴性遗传的出血性疾病,其特征是由于凝血因子 VIII(血友病 A 或经典型)或因子 IX(血友病 B)缺乏而无法放大凝血。对涉及血友病的基因进行测序,提供了主要突变的描述和记录,并与各种严重程度相关。出血表现与循环因子水平有关,主要影响肌肉骨骼系统,特别是大关节(膝盖、脚踝和肘部)。本文综述并达成了血友病的主要遗传方面的共识,从遗传模式到女性携带者的概念,疾病的病理生理学和分类,当怀疑血友病时的基本和确认研究,基于输注缺乏的凝血因子的各种治疗方案,以及创新性的无因子治疗方法和与治疗相关的并发症管理建议(抑制剂和/或输血传播感染的发展),或继发于关节出血事件(血友病性关节病)。最后,对由中和抗体引起的 FVIII 获得性缺乏为特征的获得性血友病的出血性病理的临床和治疗方面进行了相关综述。