Miyamae Takako, Kawabe Tomohiro
Pediatric Rheumatology, Institute of Rheumatology, Tokyo Women's Medical University, Tokyo 162-8666, Japan.
J Clin Med. 2021 Mar 17;10(6):1240. doi: 10.3390/jcm10061240.
Antiphospholipid syndrome (APS) is a systemic autoimmune disorder mainly characterised by increased risks of thrombosis and pregnancy morbidity and persistent positive test results for antiphospholipid antibodies (aPLs). The criteria for diagnosing juvenile APS have yet to be validated, while the Sydney classification criteria do not contain several non-thrombotic clinical manifestations associated with the presence of aPLs. As such, difficulties have been encountered in the diagnosis of patients who have no certain thrombotic occlusions. Moreover, extra-criteria manifestations (i.e., clinical manifestations not listed in the classification criteria), including neurologic manifestations (chorea, myelitis and migraine), haematologic manifestations (thrombocytopenia and haemolytic anaemia), livedo reticularis, nephropathy and valvular heart disease have been reported, which suggests that the clinical spectrum of aPL-related manifestations extends beyond that indicated in the classification criteria. Studies have demonstrated that more than 40% of children with aPLs demonstrated non-thrombotic aPL-related clinical manifestations alone. Moreover, our results showed that the pathogenesis of non-criteria manifestations is characterised by "APS vasculopathy". The present review introduces the characteristics and findings of non-criteria manifestations observed in juvenile APS.
抗磷脂综合征（APS）是一种全身性自身免疫性疾病，主要特征为血栓形成风险增加、妊娠并发症以及抗磷脂抗体（aPLs）检测结果持续呈阳性。青少年APS的诊断标准尚未得到验证，而悉尼分类标准未涵盖与aPLs存在相关的几种非血栓性临床表现。因此，对于没有明确血栓阻塞的患者，诊断存在困难。此外，还报告了一些标准外表现（即分类标准中未列出的临床表现），包括神经系统表现（舞蹈症、脊髓炎和偏头痛）、血液学表现（血小板减少症和溶血性贫血）、网状青斑、肾病和瓣膜性心脏病，这表明aPL相关表现的临床范围超出了分类标准所指出的范围。研究表明，超过40%的aPLs患儿仅表现出非血栓性aPL相关临床表现。此外，我们的结果显示，非标准表现的发病机制以“APS血管病变”为特征。本综述介绍了青少年APS中观察到的非标准表现的特征和发现。
