Yu Dandan, Xue Feng, Liu Xiaofan, Chen Yunfei, Fu Rongfeng, Sun Ting, Dai Xinyue, Ju Mankai, Dong Huan, Yang Renchi, Liu Wei, Zhang Lei
State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Tianjin Key Laboratory of Gene Therapy for Blood Diseases, Chinese Academy of Medical Sciences Key Laboratory of Gene Therapy for Blood Diseases, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China.
Tianjin Institutes of Health Science, Tianjin, China.
Res Pract Thromb Haemost. 2024 Aug 23;8(6):102554. doi: 10.1016/j.rpth.2024.102554. eCollection 2024 Aug.
Isolated acquired clotting factor deficiencies (ACFDs) are mainly caused by the existence of anti-factor antibodies or adsorption of clotting factors onto substances such as amyloid. Besides acquired factor (F)VIII deficiency (acquired hemophilia A), the remaining factor deficiencies are rare and diverse, posing challenges in both diagnosis and management.
To describe different features of isolated ACFDs to improve our understanding of these diseases and provide practical recommendations for their management.
Clinical characteristics of patients with isolated acquired FII, FV, FIX, FX, FXI, FXII, FXIII, and von Willebrand factor deficiencies were collected from a single center between July 1997 and December 2021 and analyzed retrospectively.
A total of 54 rare isolated ACFD patients were enrolled in our study, mainly including 20 acquired FV deficiency patients and 16 acquired FX deficiency patients. The median age at diagnosis of all rare isolated ACFD patients was 55 years. The median time to diagnose all rare isolated ACFD patients was 60 days. Ten (18.5%) rare isolated ACFD patients had no bleeding and 2 (3.7%) rare isolated ACFD patients showed venous thromboembolism. Hemostatic treatment was applied to 41 (41/54; 75.9%) rare isolated ACFD patients. Thirty-seven (68.5%) rare isolated ACFD patients received immunosuppressive therapy, and 10 (18.5%) rare isolated ACFD patients received chemotherapy targeting primary diseases. Twenty-two (61.9%) rare isolated ACFD patients achieved complete remission, and 9 (21.4%) rare isolated ACFD patients died.
Rare isolated ACFDs are underestimated, associated with delayed diagnosis, and lack effective therapy. Clinicians should raise awareness for recognizing and managing rare isolated ACFD patients to avoid morbidity and mortality.
孤立性获得性凝血因子缺乏症（ACFDs）主要由抗因子抗体的存在或凝血因子吸附到淀粉样蛋白等物质上引起。除了获得性因子（F）VIII缺乏症（获得性血友病A）外，其余因子缺乏症罕见且多样，在诊断和管理方面都具有挑战性。
描述孤立性ACFDs的不同特征，以增进我们对这些疾病的理解，并为其管理提供实用建议。
收集1997年7月至2021年12月期间来自单一中心的孤立性获得性FII、FV、FIX、FX、FXI、FXII、FXIII和血管性血友病因子缺乏症患者的临床特征，并进行回顾性分析。
本研究共纳入54例罕见的孤立性ACFD患者，主要包括20例获得性FV缺乏症患者和16例获得性FX缺乏症患者。所有罕见的孤立性ACFD患者诊断时的中位年龄为55岁。所有罕见的孤立性ACFD患者的中位诊断时间为60天。10例（18.5%）罕见的孤立性ACFD患者无出血症状，2例（3.7%）罕见的孤立性ACFD患者出现静脉血栓栓塞。41例（41/54；75.9%）罕见的孤立性ACFD患者接受了止血治疗。37例（68.5%）罕见的孤立性ACFD患者接受了免疫抑制治疗，10例（18.5%）罕见的孤立性ACFD患者接受了针对原发性疾病的化疗。22例（61.9%）罕见的孤立性ACFD患者实现完全缓解，9例（21.4%）罕见的孤立性ACFD患者死亡。
罕见的孤立性ACFDs被低估，与诊断延迟相关，且缺乏有效治疗方法。临床医生应提高对罕见孤立性ACFD患者的识别和管理意识，以避免发病和死亡。
