Περίληψη:
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.
Συγγραφείς:
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.
Λέξεις-κλειδιά:
adult; aged; amyloid neuropathy; Article; ATTR amyloidosis; cohort analysis; delayed diagnosis; disease duration; endemic disease; female; gene; gene mutation; genotype phenotype correlation; Greece; Greek (citizen); human; major clinical study; male; middle aged; onset age; publication; TTR gene; very elderly; familial amyloid polyneuropathy; genetics; Southern Europe, transthyretin; TTR protein, human, Adult; Age of Onset; Aged; Amyloid Neuropathies, Familial; Female; Greece; Humans; Male; Mediterranean Islands; Middle Aged; Prealbumin
