Agnelli Giacchello Jacopo, Trincheri Nicol Francesca, Sciancalepore Patrizia, Contino Laura, Santi Roberto Mario, Pengo Vittorio
Hemostasis and thrombosis unit, AOU SS Antonio e Biagio e C Arrigo, Alessandria, Italy.
Analysis laboratory unit, AOU SS Antonio e Biagio e C Arrigo, Alessandria.
Lupus. 2024 Dec;33(14):1611-1614. doi: 10.1177/09612033241299619. Epub 2024 Nov 5.
Lupus anticoagulant hypoprothrombinemia syndrome (LAHPS) is a rare autoimmune condition characterized by acquired prothrombin (FII) deficiency associated with antiphospholipid syndrome (APS) and life-threatening bleeding. We present the case of a 34-year-old woman with heavy menstrual bleeding (HMB), positive Lupus anticoagulant (LA) test, and high titer anticardiolipin antibodies Immunoglobulin G (ACA IgG) and anti-β2 glycoprotein I antibodies IgG (antiB2GPI IgG). Severe iron deficiency anemia necessitated recurrent blood transfusions and intravenous iron infusions from 2018 to 2021.
In January 2022, she was admitted to our clinic. Von Willebrand disease screening and platelet function analysis (PFA100) were normal. FII and FIX deficiencies were detected, without factor IX inhibitors. Anti-phosphatidylserine/prothrombin antibodies were confirmed by Padua University lab. To reduce antibody titers and menstrual bleeding, immunosuppressive therapy (Rituximab 375 mg/m2 weekly ×4 weeks) and hormonal therapy (desogestrel 75 mcg/day) were initiated.
After 1-year, complete remission of clinical symptoms was achieved, with normalization of FII and FIX values and moderate reduction of aPS/PT titers, especially IgM isotype.
狼疮抗凝物质低凝血酶原血症综合征（LAHPS）是一种罕见的自身免疫性疾病，其特征为获得性凝血酶原（FII）缺乏，与抗磷脂综合征（APS）相关，可导致危及生命的出血。我们报告一例34岁女性，有月经过多（HMB）、狼疮抗凝物质（LA）检测阳性以及高滴度抗心磷脂抗体免疫球蛋白G（ACA IgG）和抗β2糖蛋白I抗体IgG（抗B2GPI IgG）。严重缺铁性贫血导致她在2018年至2021年期间需要反复输血和静脉输注铁剂。
2022年1月，她入住我们的诊所。血管性血友病因子检测和血小板功能分析（PFA100）均正常。检测到FII和FIX缺乏，无因子IX抑制剂。帕多瓦大学实验室证实存在抗磷脂酰丝氨酸/凝血酶原抗体。为降低抗体滴度和减少月经过多，开始采用免疫抑制治疗（利妥昔单抗375 mg/m2，每周1次，共4周）和激素治疗（去氧孕烯75 mcg/天）。
1年后，临床症状完全缓解，FII和FIX值恢复正常，抗磷脂抗体/凝血酶原（aPS/PT）滴度适度降低，尤其是IgM亚型。
