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获得性血友病A:一种引人入胜的疾病。

Acquired Haemophilia A: An Intriguing Disease.

作者信息

Mazzucconi Maria Gabriella, Baldacci Erminia, Ferretti Antonietta, Santoro Cristina

机构信息

Ematologia, Università Sapienza, Roma, Italia.

Ematologia, Azienda Ospedaliera Universitaria Policlinico Umberto I, Roma, Italia.

出版信息

Mediterr J Hematol Infect Dis. 2020 Jul 1;12(1):e2020045. doi: 10.4084/MJHID.2020.045. eCollection 2020.

Abstract

. Acquired Haemophilia A is a rare acquired bleeding disorder caused by Factor VIII autoantibodies, which neutralise FVIII activity. These inhibitors differ from alloantibodies against FVIII, which can occur in congenital Haemophilia A after repeated exposures to plasma-derived or recombinant FVIII products. In most cases, the disease occurs suddenly in subjects without a personal or familiar history of bleedings, with symptoms that may be mild, moderate, or severe. However, only laboratory alterations are present in ~ 30% of patients. The incidence varies from 1 to 4 cases per million/year; more than 80% of patients are elderly, males and females are similarly affected. There is a small peak of incidence related to pregnancy in young women aged 20-40 years. The disease may be underdiagnosed in the elderly. The diagnostic algorithm is based on an isolated prolonged activated partial thromboplastin time, normal thrombin time, absence of Lupus Anticoagulant, and a mixing test that reveals the presence of an inhibitor: the finding of reduced FVIII activity and the detection of neutralising autoantibodies against FVIII lead to the diagnosis. The disease is idiopathic in 44%-63% of cases, while in the others etiological factors are present. Bleeding prevention and treatment are based on therapeutic tools as by-passing agents, recombinant porcine FVIII concentrate or, in a limited number of cases, FVIII concentrates and desmopressin. As soon as the diagnosis has been made, immunosuppressive therapy must be started to eradicate the inhibitor. Better knowledge of the disease, optimal management of bleeding and eradication of the inhibitor have significantly reduced morbidity and mortality in most patients.

摘要

获得性血友病A是一种由VIII因子自身抗体引起的罕见获得性出血性疾病,这些自身抗体可中和FVIII活性。这些抑制剂不同于针对FVIII的同种抗体,后者可在先天性血友病A患者反复接触血浆源性或重组FVIII产品后出现。在大多数情况下,该病在无个人或家族出血史的患者中突然发生,症状可能为轻度、中度或重度。然而,约30%的患者仅存在实验室检查异常。发病率为每年百万分之一至四例;超过80%的患者为老年人,男女受影响程度相似。在20 - 40岁的年轻女性中,与妊娠相关的发病率有一个小高峰。该病在老年人中可能诊断不足。诊断算法基于活化部分凝血活酶时间单独延长、凝血酶时间正常、无狼疮抗凝物以及混合试验显示存在抑制剂:FVIII活性降低以及检测到针对FVIII的中和自身抗体可确诊。44% - 63%的病例病因不明,其他病例存在病因学因素。出血的预防和治疗基于旁路制剂、重组猪FVIII浓缩物等治疗手段,在少数情况下使用FVIII浓缩物和去氨加压素。一旦确诊,必须开始免疫抑制治疗以根除抑制剂。对该疾病的深入了解、出血的最佳管理以及抑制剂的根除已显著降低了大多数患者的发病率和死亡率。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c8fb/7340240/bf02bb36fb46/mjhid-12-1-e2020045f1.jpg

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