Institute of Cardiology, University of Bologna and S.Orsola-Malpighi Hospital, Bologna, Italy.
Amyloid. 2012 Jun;19 Suppl 1:16-21. doi: 10.3109/13506129.2012.673185. Epub 2012 Apr 12.
Hereditary transthyretin-related amyloidosis remains a widely underdiagnosed condition, owing to its extreme phenotypic variability: the clinical spectrum of the disease ranges from an almost exclusive neurologic involvement to strictly cardiac manifestations. This heterogeneity is linked to several factors including specific transthyretin mutations, geographic distribution and endemic vs. non-endemic aggregation type. The existence of exclusively or predominantly cardiac phenotypes makes the recognition of the disease very challenging since it can mimic other more common causes of left ventricular "hypertrophy". Assessment of such patients should include an active search for possible red flags that can indicate the correct final diagnosis.
遗传性转甲状腺素蛋白相关淀粉样变性仍是一种广泛未被诊断的疾病，这归因于其极端的表型变异性：该病的临床谱范围从几乎完全的神经受累到严格的心脏表现。这种异质性与几个因素有关，包括特定的转甲状腺素蛋白突变、地理分布以及地方性与非地方性聚集类型。仅或主要为心脏表型的存在使得该疾病的识别极具挑战性，因为它可能模仿其他更常见的左心室“肥厚”的原因。对这些患者的评估应包括积极寻找可能提示正确最终诊断的“危险信号”。
