Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104-4274, USA.
Blood. 2012 Nov 15;120(20):4134-42. doi: 10.1182/blood-2012-06-389445. Epub 2012 Sep 10.
Prevailing approaches to manage autoimmune thrombotic disorders, such as heparin-induced thrombocytopenia, antiphospholipid syndrome and thrombotic thrombocytopenic purpura, include immunosuppression and systemic anticoagulation, though neither provides optimal outcome for many patients. A different approach is suggested by the concurrence of autoantibodies and their antigenic targets in the absence of clinical disease, such as platelet factor 4 in heparin-induced thrombocytopenia and β(2)-glycoprotein-I (β(2)GPI) in antiphospholipid syndrome. The presence of autoantibodies in the absence of disease suggests that conformational changes or other alterations in endogenous protein autoantigens are required for recognition by pathogenic autoantibodies. In thrombotic thrombocytopenic purpura, the clinical impact of ADAMTS13 deficiency caused by autoantibodies likely depends on the balance between residual antigen, that is, enzyme activity, and demand imposed by local genesis of ultralarge multimers of von Willebrand factor. A corollary of these concepts is that disrupting platelet factor 4 and β(2)GPI conformation (or ultralarge multimer of von Willebrand factor oligomerization or function) might provide a disease-targeted approach to prevent thrombosis without systemic anticoagulation or immunosuppression. Validation of this approach requires a deeper understanding of how seemingly normal host proteins become antigenic or undergo changes that increase antibody avidity, and how they can be altered to retain adaptive functions while shedding epitopes prone to elicit harmful autoimmunity.
目前治疗自身免疫性血栓性疾病(如肝素诱导的血小板减少症、抗磷脂综合征和血栓性血小板减少性紫癜)的方法主要包括免疫抑制和全身抗凝,但对许多患者来说,这两种方法都不能取得理想的效果。在没有临床疾病的情况下,自身抗体及其抗原靶点同时存在,如肝素诱导的血小板减少症中的血小板因子 4 和抗磷脂综合征中的β(2)-糖蛋白 I(β(2)GPI),这表明存在自身抗体而没有疾病表明,内源性蛋白自身抗原的构象变化或其他改变是致病性自身抗体识别所必需的。在血栓性血小板减少性紫癜中,由自身抗体引起的 ADAMTS13 缺乏的临床影响可能取决于局部产生超大分子量 von Willebrand 因子多聚体的抗原,即酶活性和需求之间的平衡。这些概念的推论是,破坏血小板因子 4 和β(2)GPI 构象(或超大分子量 von Willebrand 因子多聚体寡聚化或功能)可能提供一种针对疾病的方法,无需全身抗凝或免疫抑制即可预防血栓形成。要验证这种方法,需要更深入地了解看似正常的宿主蛋白如何成为抗原或发生增加抗体亲和力的改变,以及如何改变它们以保留适应性功能,同时去除易于引发有害自身免疫的表位。