Refine penetrance estimates in the main pathogenic variants of transthyretin hereditary (familial) amyloid polyneuropathy (TTR-FAP) using a new non-parametric approach (NPSE)
Résumé
Significant variability of phenotype and age of onset are well known in TTR-FAP associated to a wide spectrum of pathogenic TTR variants, among which Val30Met is the most frequent [1,2]. Recently, new therapeutic options became available that should be administered from the very onset of symptoms. In this context, the knowledge of the risk of being symptomatic for mutation carriers (penetrance) is essential to adjust the follow-up of carriers and for patient
management [3,4]. This study aims to refine penetrance estimates in the main pathogenic variants encountered in our
TTR-FAP population using a newly developed non parametric approach named NPSE for Non-Parametric Survival Estimate.
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