Two types of amyloidosis presenting in a single patient: a case series
Two types of amyloidosis presenting in a single patient: a case series
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DOI：
10.1038/s41408-019-0193-9
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发表时间：
2019-03-05
影响因子：
12.8
通讯作者：
Dispenzieri, Angela
中科院分区：
文献类型：
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作者：
Sidiqi, M. Hasib;McPhail, Ellen D.;Dispenzieri, Angela
淀粉样变性是一组具有重叠临床表现的疾病，其特征在于错误折叠的蛋白质的聚集和组织沉积。淀粉样蛋白的性质和来源决定了治疗，因此正确的亚型对患者管理至关重要。我们报告了9例经液相色谱-串联质谱法确诊为两种淀粉样蛋白类型的患者的临床病理特征。最常见的类型是甲状腺素运载蛋白（n = 9）和免疫球蛋白衍生的（n = 7）。两名患者没有免疫球蛋白源性淀粉样变性，尽管存在单克隆丙种球蛋白病。8例患者同时被诊断为两种类型，1例患者的诊断间隔为11年。淀粉样蛋白的组织学分布是可变的，可见血管、间质和骨膜沉积。第二种类型的鉴定在7名患者中是偶然的，但导致一名患者接受遗传咨询，另一名患者接受针对两种淀粉样蛋白亚型的治疗。随着骨髓瘤和AL淀粉样变性患者的生存期延长以及由于人口老龄化而导致野生型甲状腺素运载蛋白淀粉样变性患者的患病率增加，将更频繁地遇到单个患者中两种淀粉样蛋白类型的现象。鉴于甲状腺素运载蛋白淀粉样变性的革命性新疗法（patisiran、tafamaltine和inotersen），双重淀粉样蛋白类型的识别具有高度临床相关性。
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.