Center of Research of Immunopathology and Rare Diseases- Coordinating Center of Piemonte and Valle d'Aosta Network for Rare Diseases, Department of Clinical and Biological Sciences, SCDU Nephrology and Dialysis, S. Giovanni Bosco Hospital, Piazza del Donatore di Sangue 3, 10154 Turin, Italy.
Center of Research of Immunopathology and Rare Diseases- Coordinating Center of Piemonte and Valle d'Aosta Network for Rare Diseases, Department of Clinical and Biological Sciences, SCDU Nephrology and Dialysis, S. Giovanni Bosco Hospital, Piazza del Donatore di Sangue 3, 10154 Turin, Italy.
Autoimmun Rev. 2020 Oct;19(10):102641. doi: 10.1016/j.autrev.2020.102641. Epub 2020 Aug 13.
Patients with antiphospholipid syndrome (APS) present with clinical features of recurrent thrombosis and pregnancy morbidity and persistently test positive for the presence of antiphospholipid antibodies (aPL). At least one clinical (vascular thrombosis or pregnancy morbidity) and one lab-based (positive test result for lupus anticoagulant, anticardiolipin antibodies and/or anti-β2-glycoprotein 1 antibodies) criterion have to be met for a patient to be classified as having APS. Nevertheless, the clinical variety of APS encompasses additional signs and symptoms, potentially affecting any organ, that cannot be explained exclusively by a prothrombotic state. Those manifestations, also known as extra-criteria manifestations, include haematologic (thrombocytopenia and haemolytic anaemia), neurologic (chorea, myelitis and migraine) manifestations as well as the presence of livedo reticularis, nephropathy and valvular heart disease. The growing body of evidence describing the clinical aspect of the syndrome has been paralleled over the years by emerging research interest focusing on the development of novel biomarkers that might improve the diagnostic accuracy for APS when compared to the current aPL tests. This review will focus on the clinical utility of extra-criteria aPL specificities. Besides, the promising role of a new technology using particle based multi-analyte testing that supports aPL panel algorithm testing will be discussed. Diagnostic approaches to difficult cases, including real-world case studies investigating the diagnostic added value of extra criteria aPL, particularly anti-phosphatidylserine/prothrombin, will also be examined.
抗磷脂综合征（APS）患者表现为复发性血栓形成和妊娠并发症，且抗磷脂抗体（aPL）持续呈阳性。患者至少符合一项临床（血管血栓形成或妊娠并发症）和一项实验室标准（狼疮抗凝物、抗心磷脂抗体和/或抗β2-糖蛋白 1 抗体阳性检测结果）才能被诊断为 APS。然而，APS 的临床表现还包括其他不能仅用血栓形成状态来解释的体征和症状，可能影响任何器官。这些表现也称为非标准表现，包括血液学（血小板减少和溶血性贫血）、神经（舞蹈病、脊髓炎和偏头痛）表现以及网状青斑、肾病和心脏瓣膜病的存在。随着描述该综合征临床方面的证据不断增加，近年来人们对开发新的生物标志物的研究兴趣也不断增加，这些生物标志物可能会提高 APS 的诊断准确性，与目前的 aPL 检测相比。这篇综述将重点介绍非标准 aPL 特异性的临床应用。此外，还将讨论一种使用基于颗粒的多分析物检测的新技术的有前途的作用，该技术支持 aPL 面板算法检测。还将探讨困难病例的诊断方法，包括真实世界病例研究，以调查非标准 aPL，特别是抗磷脂酰丝氨酸/凝血酶原，的诊断附加价值。
