Devine D V, Currie M S, Rosse W F, Greenberg C S
Blood. 1987 Aug;70(2):428-31.
The Bernard-Soulier syndrome is an inherited bleeding disorder that is due to a deficiency in platelet glycoprotein Ib. Bernard-Soulier platelets fail to agglutinate in response to ristocetin despite normal levels of factor VIII:von Willebrand factor. We report a patient who developed severe refractory thrombocytopenia postsurgically while receiving procainamide therapy. Thrombocytopenia was immune mediated since the patient's platelets bore high levels of antiplatelet antibody. Radioimmunoprecipitation studies demonstrated that the autoantibodies had specificity for platelet glycoproteins Ib and V as well as platelet HLA. The patient's plasma as well as purified immunoglobulin G completely inhibited the ristocetin-induced aggregation of normal platelets but did not inhibit adenosine diphosphate-induced aggregation. The laboratory studies revealed that this patient suffered from antibody-mediated thrombocytopenia with unusual characteristics that we have called pseudo-Bernard-Soulier syndrome.
伯纳德-索利尔综合征是一种遗传性出血性疾病，由血小板糖蛋白Ib缺乏所致。尽管因子VIII：血管性血友病因子水平正常，但伯纳德-索利尔血小板对瑞斯托霉素无反应性凝集。我们报告一例患者，在接受普鲁卡因胺治疗期间术后出现严重难治性血小板减少症。血小板减少症是免疫介导的，因为患者的血小板带有高水平的抗血小板抗体。放射免疫沉淀研究表明，自身抗体对血小板糖蛋白Ib和V以及血小板HLA具有特异性。患者的血浆以及纯化的免疫球蛋白G完全抑制了瑞斯托霉素诱导的正常血小板聚集，但不抑制二磷酸腺苷诱导的聚集。实验室研究表明，该患者患有抗体介导的血小板减少症，具有我们所称的假性伯纳德-索利尔综合征的不寻常特征。
