Department of Pathology and Laboratory Medicine, Weill Medical College of Cornell University, New York, NY 10065, USA.
Am J Clin Pathol. 2011 Dec;136(6):903-12. doi: 10.1309/AJCPERI7LC4VNFYK.
Susac syndrome (SS) is the triad of encephalopathy, branch retinal artery occlusions (BRAOs), and hearing loss. Migraines may herald and accompany encephalopathy. Little is known about pathogenesis. Based on light microscopic findings in brain biopsy material analogous to anti-endothelial cell antibody (AECA)-mediated microvascular injury, we postulated that SS microangiopathy was attributable to AECAs. We examined serum samples from 11 patients with SS for AECAs; 9 were positive by indirect immunofluorescence and Western blot studies. A highly distinctive band on Western blots corresponding to a 50-kDa protein was observed in 8 positive SS samples; the other positive case exhibited specific reactivity with a protein band at 40 kDa. Of the 2 negative cases, 1 had been inactive since 1988; the other was an abortive variant characterized solely by BRAOs. There was enhanced surface binding of SS serum using live endothelial cell substrates compared with samples from healthy subjects. Additional serum samples from apparently healthy patients, 2 with atypical migraines, and patients with other forms of autoinflammatory disease did not show the distinctive band of immunoreactivity. SS is a distinct autoimmune endotheliopathy syndrome associated with AECAs; the antibody target seems specific in many cases and may be a disease biomarker. The exact role of AECAs in disease propagation remains unanswered.
苏萨克斯综合征（SS）是由脑病、视网膜分支动脉阻塞（BRAO）和听力损失组成的三联征。偏头痛可能预示并伴随脑病。关于发病机制知之甚少。基于类似抗内皮细胞抗体（AECA）介导的微血管损伤的脑活检材料的光镜发现，我们推测 SS 微血管病是由 AECAs 引起的。我们检测了 11 例 SS 患者的血清样本中的 AECAs；9 例通过间接免疫荧光和 Western blot 研究呈阳性。在 8 例阳性 SS 样本中观察到 Western blot 上对应于 50 kDa 蛋白的高度独特条带；另一个阳性病例与 40 kDa 蛋白带具有特异性反应。在 2 例阴性病例中，1 例自 1988 年以来一直处于不活动状态；另一个是仅表现为 BRAO 的急性变异型。与健康受试者的样本相比，使用活内皮细胞底物的 SS 血清的表面结合增强。来自明显健康的患者、2 例有非典型偏头痛的患者和患有其他形式的自身炎症性疾病的患者的其他血清样本没有显示出独特的免疫反应带。SS 是一种与 AECAs 相关的独特自身免疫性内皮细胞病综合征；在许多情况下，抗体靶标似乎是特异性的，并且可能是疾病生物标志物。AECAs 在疾病传播中的确切作用仍未得到解答。
