Department of Rheumatology and Clinical Immunology, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
School of Medicine, Tsinghua Medicine, Tsinghua University, Beijing, China.
Lupus Sci Med. 2024 Oct 1;11(2):e001332. doi: 10.1136/lupus-2024-001332.
Chorea, characterised by involuntary, irregular movements, is a rare neurological manifestation of antiphospholipid syndrome (APS). The specific clinical features remain unclear. This study aimed to summarise the available evidence on antiphospholipid antibody (aPL)-associated chorea.
We used a mixed-methods approach, combining data from patients with chorea with aPL positivity admitted to Peking Union Medical College Hospital (PUMCH) from 2014 to 2024, with cases identified in public databases since 1983. We collected and analysed clinical, laboratory, and imaging results, along with their treatments and outcomes.
A total of 180 patients with incident aPL-associated chorea were included (13 from PUMCH and 167 from the literature). The majority (81.7%) were female, with a mean age of chorea onset 22.8 years (SD=16.0). Chorea was the initial symptom in 87.9% of cases and often occurred as a single episode (67%), involving bilateral limbs (58.8%) and both upper and lower limbs (87.2%). 43.3% met the 2023 American College of Rheumatology (ACR)/European Alliance of Associations for Rheumatology (EULAR) APS classification criteria. Thrombocytopenia (30.0%) and arterial thrombosis (29.1%) were the most common manifestations. Lupus anticoagulant was positive in 84.2% of patients, anticardiolipin IgG in 70.8%, and anti-β2 glycoprotein I IgG in 52.9%. Among those who had results available for the three tests, 57.6% were triple-positive. ANAs were positive in 63.6%. MRI revealed basal ganglia lesions in only 14.8% of patients, whereas all positron emission tomography (PET) scans showed contralateral striatal hypermetabolism. Treatment varied, with most receiving combination therapies of neuroleptics, anticoagulants, antiplatelets, steroids and immunosuppressants. Chorea completely or partially improved in 95.5% of patients.
Chorea is a significant but under-recognised manifestation of APS, predominantly affecting young women and often presenting as the initial symptom. Characteristic PET findings of contralateral striatal hypermetabolism can assist in diagnosis. Treatments with glucocorticoids and immunosuppressive therapies appear beneficial. Further research is needed to understand the pathophysiology and optimise management strategies for aPL-associated chorea.
舞蹈症是一种以不自主、不规则运动为特征的罕见神经系统表现，是抗磷脂综合征（APS）的一种罕见表现。其具体的临床特征尚不清楚。本研究旨在总结抗磷脂抗体（aPL）相关性舞蹈症的现有证据。
我们采用混合方法，纳入 2014 年至 2024 年期间因舞蹈症伴 aPL 阳性而入住北京协和医院（PUMCH）的患者，并结合 1983 年以来公共数据库中已识别的病例，收集和分析临床、实验室和影像学结果及其治疗和结局。
共纳入 180 例舞蹈症伴 aPL 阳性患者（13 例来自 PUMCH，167 例来自文献）。大多数（81.7%）为女性，舞蹈症发病的平均年龄为 22.8 岁（标准差=16.0）。87.9%的患者以舞蹈症为首发症状，且常为单发性发作（67%），累及双侧肢体（58.8%）和上下肢（87.2%）。43.3%符合 2023 年美国风湿病学会（ACR）/欧洲抗风湿病联盟（EULAR）APS分类标准。血小板减少症（30.0%）和动脉血栓形成（29.1%）是最常见的表现。84.2%的患者狼疮抗凝物阳性，70.8%抗心磷脂 IgG 阳性，52.9%抗β2糖蛋白 I IgG 阳性。在那些有三项检查结果的患者中，57.6%为三阳性。63.6%抗核抗体阳性。MRI 仅显示 14.8%的患者基底节区病变，而所有正电子发射断层扫描（PET）扫描均显示对侧纹状体代谢亢进。治疗方案各不相同，大多数患者接受神经安定药、抗凝剂、抗血小板药物、皮质类固醇和免疫抑制剂的联合治疗。95.5%的患者舞蹈症完全或部分改善。
舞蹈症是 APS 的一个重要但认识不足的表现，主要影响年轻女性，常作为首发症状出现。对侧纹状体代谢亢进的特征性 PET 发现有助于诊断。糖皮质激素和免疫抑制治疗似乎有益。需要进一步研究以了解 aPL 相关性舞蹈症的病理生理学和优化管理策略。
