Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Department of Anatomic Pathology, R. Tomsich Pathology & Laboratory Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Am J Ophthalmol. 2018 Sep;193:28-32. doi: 10.1016/j.ajo.2018.05.032. Epub 2018 Jun 8.
Ocular adnexal amyloidosis (OAA) may represent localized manifestation of an underlying systemic process. Accurate identification of the amyloid fibrils can guide the systemic evaluation and treatment. The aim of this study was to characterize subtypes of OAA using immunohistochemistry and mass spectrometric analysis and to correlate with ocular involvement and systemic association.
Retrospective case series.
Review of patients with OAA subtyped by immunohistochemistry and mass spectrometric analysis at the Cleveland Clinic from June 1995 to June 2017.
While immunohistochemistry identified AL amyloid protein in 67% (4/6) of specimens tested, mass spectrometry identified AL amyloid protein in all specimens (10/10). AL lambda was identified in 5 (50%) samples, kappa in 3 (30%), and both kappa and lambda light chains in 2 (20%). The 5 cases of conjunctival amyloidosis were either AL lambda only (3 cases) or both lambda and kappa (2 cases). There were 3 cases that had associated systemic involvement. Two of these had eyelid skin involvement and AL kappa amyloidosis and the other patient had uveal involvement and AL lambda amyloidosis.
Primary amyloidosis-AL is the most common form diagnosed by mass spectrometric analysis in patients with OAA. Immunohistochemistry is ineffective in the characterization of the amyloid deposits in a significant number of cases. Evaluation to exclude systemic involvement or associated underlying lymphoproliferative disorder is warranted.
眼附属器淀粉样变性（OAA）可能代表潜在系统性疾病的局部表现。准确识别淀粉样纤维可指导系统评估和治疗。本研究的目的是使用免疫组织化学和质谱分析来描述 OAA 的亚型，并与眼部受累和系统关联相关联。
回顾性病例系列。
回顾性分析 1995 年 6 月至 2017 年 6 月在克利夫兰诊所进行免疫组织化学和质谱分析的 OAA 患者亚型。
虽然免疫组织化学在 67%（4/6）的检测标本中识别出 AL 淀粉样蛋白，但质谱在所有标本中均识别出 AL 淀粉样蛋白（10/10）。5 个样本中鉴定出 AL lambda（50%），3 个样本中鉴定出 kappa（30%），2 个样本中鉴定出 kappa 和 lambda 轻链（20%）。5 例结膜淀粉样变性均为 AL lambda （3 例）或 AL lambda 和 kappa （2 例）。有 3 例存在相关的系统性受累。其中 2 例有眼睑皮肤受累和 AL kappa 淀粉样变性，另 1 例有葡萄膜受累和 AL lambda 淀粉样变性。
原发性淀粉样变性-AL 是通过质谱分析在 OAA 患者中诊断出的最常见形式。免疫组织化学在相当数量的病例中无法有效地对淀粉样沉积物进行特征描述。需要评估是否存在系统性受累或相关的潜在淋巴增生性疾病。
