Hematology and Medical Oncology Unit, Morales Meseguer University Hospital, Regional Blood Donation Center, University of Murcia, Biomedical Research Institute of Murcia (IMIB), CIBER Rare Diseases (CIBERER), Murcia, Spain
Hematology and Medical Oncology Unit, Morales Meseguer University Hospital, Regional Blood Donation Center, University of Murcia, Biomedical Research Institute of Murcia (IMIB), CIBER Rare Diseases (CIBERER), Murcia, Spain.
Pol Arch Intern Med. 2020 Oct 29;130(10):868-877. doi: 10.20452/pamw.15371. Epub 2020 May 19.
Antithrombin is a key endogenous anticoagulant that also plays other roles in inflammation, immunity, and other processes. Congenital antithrombin deficiency is the most severe type of thrombophilia, yet characterized by a remarkable clinical heterogeneity. Here, as a primer for internists, we present a practical review of data regarding this disorder, focused on its molecular basis, diagnostic procedures, prognostic implications, and clinical management of patients suffering from this severe, and probably underdiagnosed, type of thrombophilia.
抗凝血酶是一种关键的内源性抗凝剂，在炎症、免疫和其他过程中也发挥着其他作用。先天性抗凝血酶缺乏症是血栓形成倾向中最严重的类型，但表现出显著的临床异质性。在这里，作为内科医生的入门读物，我们对有关这种疾病的数据进行了实用的回顾，重点介绍了其分子基础、诊断程序、预后意义以及患有这种严重且可能被低估的血栓形成倾向类型的患者的临床管理。
