Niemietz Christoph, Röcken Christoph, Schilling Matthias, Stypmann Jörg, Uhlig Constantin E, Schmidt Hartmut H-J
Dtsch Med Wochenschr. 2018 Mar;143(6):427-430. doi: 10.1055/s-0043-123681. Epub 2018 Mar 15.
Transthyretin-related Familial Amyloid Polyneuropathy (ATTR Amyloidosis, former FAP, here called TTR-FAP) is a rare, progressive autosomal dominant inherited amyloid disease ending fatal within 5 - 15 years after final diagnosis. TTR-FAP is caused by mutations of transthyretin (TTR), which forms amyloid fibrils affecting peripheral and autonomic nerves, the heart and other organs. Due to the phenotypic heterogeneity and partly not specific enough clinical symptoms, diagnosis of TTR-FAP can be complicated. False diagnoses can include idiopathic polyneuropathy, chronic inflammatory demyelinating polyneuropathy, diabetic neuropathy as well as paraneoplastic syndrome. Hence, it is assumed that many cases remain unreported. Early and correct diagnosis of TTR-FAP is crucial, since appropriate therapeutic options exist. TTR-FAP should always be differentially diagnosed, when apart from a progressive peripheral polyneuropathy, additional symptoms as autonomic dysfunction, cardiomyopathy, gastrointestinal disorders, unexpected loss of weight, carpal tunnel syndrome, restrictions of renal function, epileptic fits, and corneal and vitreous body clouding occur. Histological evidence of amyloid and successive immunohistochemical evidence of transthyretin as well as genetic testing for transthyretin mutations, lead to an accurate diagnosis.
转甲状腺素蛋白相关家族性淀粉样多神经病（ATTR淀粉样变性，原称FAP，此处称为TTR - FAP）是一种罕见的、进行性常染色体显性遗传性淀粉样疾病，在最终诊断后5至15年内致命。TTR - FAP由转甲状腺素蛋白（TTR）突变引起，TTR形成淀粉样纤维，影响周围神经和自主神经、心脏及其他器官。由于表型异质性以及部分临床症状不够特异，TTR - FAP的诊断可能会很复杂。误诊可能包括特发性多神经病、慢性炎症性脱髓鞘性多神经病、糖尿病性神经病以及副肿瘤综合征。因此，据推测许多病例未被报告。TTR - FAP的早期正确诊断至关重要，因为存在合适的治疗选择。当除了进行性周围多神经病外，还出现自主神经功能障碍、心肌病、胃肠道疾病、意外体重减轻、腕管综合征、肾功能受限、癫痫发作以及角膜和玻璃体混浊等其他症状时，应始终对TTR - FAP进行鉴别诊断。淀粉样物质的组织学证据以及随后转甲状腺素蛋白的免疫组化证据，以及转甲状腺素蛋白突变的基因检测，可导致准确诊断。
