Neurogenetics Unit, 1st Department of Neurology, Eginitio University Hospital, National and Kapodistrian University of Athens, Athens, Greece;.
Plasma Cell Dyscrasia Unit, Department of Clinical Therapeutics, National and Kapodistrian University of Athens, Athens, Greece.
Neuromuscul Disord. 2021 Dec;31(12):1251-1258. doi: 10.1016/j.nmd.2021.09.008. Epub 2021 Sep 29.
Comprehensive data on variant transthyretin amyloidosis polyneuropathy (ATTRv-PN) in Greece are lacking. We presently provide an overview of ATTRv-PN in Greece, focusing on unexplored non-endemic regions of the country. In total, we identified 57 cases of ATTRv-PN diagnosed over the past 25 years, including 30 from the island of Crete, an apparent endemic region. Patients carried 10 different TTR mutations (C10R; P24S; V30M; R34G; R34T; I68L; A81T; E89Q; E89K and V94A). Carriers of the common V30M mutation constituted 54.3 % of the cohort. A known founder effect for the V30M mutation was present on the island of Crete. Non-endemic cases identified outside the island of Crete are presently reported in more detail. The age of onset ranged from 25 to 77 years, with a mean of 51.1 years. A mean diagnostic delay of 3.2 years was observed. V30M patients had earlier onset and less cardiac involvement than patients carrying other mutations. Genotype-phenotype correlations were largely consistent with published data. We conclude that, with the exception of the Cretan cluster, ATTRv-PN is not endemic in the Greek population. This makes timely diagnosis more challenging, yet absolutely essential given the availability of therapies that can alter the long-term course of the disease.
希腊在变异型转甲状腺素蛋白淀粉样变性多发性神经病（ATTRv-PN）方面缺乏全面的数据。我们目前提供了希腊的 ATTRv-PN 概述，重点关注该国未探索的非地方性地区。在过去的 25 年中，我们总共发现了 57 例 ATTRv-PN 病例，其中包括来自克里特岛的 30 例，克里特岛是一个明显的地方性地区。患者携带 10 种不同的 TTR 突变（C10R；P24S；V30M；R34G；R34T；I68L；A81T；E89Q；E89K 和 V94A）。该队列中携带常见 V30M 突变的患者占 54.3%。在克里特岛上存在 V30M 突变的已知创始效应。目前在克里特岛以外的非地方性地区报告了更多的非地方性病例。发病年龄从 25 岁到 77 岁不等，平均为 51.1 岁。观察到平均诊断延迟为 3.2 年。与携带其他突变的患者相比，V30M 患者的发病年龄更早，心脏受累程度更低。基因型-表型相关性在很大程度上与已发表的数据一致。我们得出结论，除了克里特岛集群外，ATTRv-PN 在希腊人群中并非地方性疾病。这使得及时诊断更加具有挑战性，但鉴于存在可以改变疾病长期进程的疗法，这是绝对必要的。
