文章：

单一患者中呈现两种类型的淀粉样变性：病例系列

Two types of amyloidosis presenting in a single patient: a case series

原文发布日期：2019-03-05

DOI: 10.1038/s41408-019-0193-9

类型: Article

开放获取: 是

英文摘要：

The amyloidoses are a group of disorders with overlapping clinical presentations, characterized by aggregation and tissue deposition of misfolded proteins. The nature and source of the amyloidogenic protein determines therapy, therefore correct subtyping is critical to patient management. We report the clinicopathologic features of nine patients diagnosed with two amyloid types confirmed by liquid chromatography-coupled tandem mass spectrometry. The most common types were transthyrethin (n = 9) and immunoglobulin-derived (n = 7). Two patients did not have immunoglobulin-derived amyloidosis despite the presence of a monoclonal gammopathy. Eight patients were diagnosed with two types concurrently, and one patient had an 11-year interval between diagnoses. Histopathological distribution of amyloid was variable with vascular, interstitial, and periosteal deposits seen. Identification of a second type was incidental in seven patients, but led to genetic counselling in one patient and therapy directed at both amyloid subtypes in another. With longer survival of myeloma and AL amyloidosis patients and increasing prevalence of patients with wild-type transthyretin amyloidosis due to an aging population, the phenomenon of two amyloid types in a single patient will be encountered more frequently. In light of revolutionary new therapies for transthyretin amyloidosis (patisiran, tafamidis, and inotersen), recognition of dual amyloid types is highly clinically relevant.

摘要翻译： 

淀粉样变性是一组临床表现重叠的疾病，其特征为错误折叠蛋白的聚集和组织沉积。淀粉样蛋白的性质和来源决定了治疗方法，因此正确的亚型分型对患者管理至关重要。我们报告了九例经液相色谱-串联质谱法证实诊断出两种淀粉样蛋白类型患者的临床病理特征。最常见的类型为转甲状腺素蛋白（n=9）和免疫球蛋白源性（n=7）。两名患者尽管存在单克隆丙种球蛋白病，但并未患有免疫球蛋白源性淀粉样变性。八名患者同时被诊断出两种类型，一名患者的两次诊断间隔了11年。淀粉样蛋白的组织病理学分布多变，可见血管、间质和骨膜沉积。在七名患者中，第二种类型的发现属偶然，但导致一名患者接受了遗传咨询，另一名患者接受了针对两种淀粉样亚型的治疗。随着骨髓瘤和AL淀粉样变性患者生存期的延长，以及人口老龄化导致野生型转甲状腺素蛋白淀粉样变性患病率增加，单一患者中出现两种淀粉样蛋白类型的现象将更频繁地遇到。鉴于转甲状腺素蛋白淀粉样变性的革命性新疗法（patisiran、tafamidis和inotersen），识别双重淀粉样蛋白类型具有高度的临床相关性。

原文链接：

Two types of amyloidosis presenting in a single patient: a case series