Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots.
Michaela Auer-GrumbachRene RettlKlemens AblasserHermine AgisChristian BeetzFranz DucaMartin GattermeierFranz GlaserMarkus HackerRenate KainBirgit KaufmannGábor G KovácsChristian LamplNeira LjevakovicJutta NageleGerhard PoelzlStefan QuasthoffBernadette RaimannHelmut RauschkaChristian ReiterVolha SkrahinaOthmar SchuhfriedRaute Sunder-PlassmannNicolas D VerheyenJulia WanschitzThomas WeberReinhard WindhagerRaphael WurmFriedrich ZimprichWolfgang N LöscherDiana BondermanPublished in: Journal of clinical medicine (2020)
Our study underlined the relevance of hATTR in the pathogenesis of amyloid-driven cardiomyopathy and axonal polyneuropathy and indicated considerable genetic heterogeneity of this disease in the Austrian population. The estimated prevalence of hATTR in Austria based on this study is 1:200,000 but a potentially higher number of unknown cases must be taken into account. With respect to new therapeutic approaches, we strongly propose genetic testing of the TTR gene in an extended cohort of patients with unexplained heart failure and progressive polyneuropathy.