Heterogeneity in families with ATTRV30M amyloidosis: a historical and longitudinal Portuguese case study impact for genetic counselling.

Background: Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is an inherited disease, where the study of family history holds importance. This study evaluates the changes of age-of-onset (AOO) and other age-related clinical factors within and among families affected by ATTRv amyloidosis.

Methods: We analysed information from 934 trees, focusing on family, parents, probands and siblings relationships.

Clinical model for Hereditary Transthyretin Amyloidosis age of onset prediction.

Introduction: Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is a rare neurological hereditary disease clinically characterized as severe, progressive, and life-threatening while the age of onset represents the moment in time when the first symptoms are felt. In this study, we present and discuss our results on the study, development, and evaluation of an approach that allows for time-to-event prediction of the age of onset, while focusing on genealogical feature construction.

Materials And Methods: This research was triggered by the need to answer the medical problem of when will an asymptomatic ATTRv patient show symptoms of the disease.