| Autor: |
Koutsis, G. Kastritis, E. Kontogeorgiou, Z. Kartanou, C. Kokotis, P. Rentzos, M. Breza, M. Kleopa, K.A. Christodoulou, K. Oikonomou, E. Anastasakis, A. Angelidakis, P. Sarmas, I. Kargiotis, O. Tzagournissakis, M. Zaganas, I. Foukarakis, E. Sachpekidis, V. Papathoma, A. Panas, M. Stefanis, L. Dimopoulos, M.A. Karadima, G. |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Popis: |
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. © 2021 Elsevier B.V. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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