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

Autor:	Pedroto M; Laboratory of Artificial Intelligence and Decision Support (LIAAD, INESCTEC), Porto, Portugal.; Department of Informatics Engineering, Faculty of Engineering, University of Porto, Porto, Portugal.; Department of Computer Sciences, Faculty of Sciences, University of Porto, Porto, Portugal., Coelho T; Unidade Corino de Andrade, Centro Hospitalar Universitário de Santo António, Porto, Portugal., Fernandes J; Unidade Corino de Andrade, Centro Hospitalar Universitário de Santo António, Porto, Portugal., Oliveira A; ESS - Polytechnic of Porto (ESS-P.PORTO), Porto, Portugal.; Artificial Intelligence and Computer Science Laboratory (LIACC), Porto, Portugal., Jorge A; Laboratory of Artificial Intelligence and Decision Support (LIAAD, INESCTEC), Porto, Portugal.; Department of Computer Sciences, Faculty of Sciences, University of Porto, Porto, Portugal., Mendes-Moreira J; Laboratory of Artificial Intelligence and Decision Support (LIAAD, INESCTEC), Porto, Portugal.; Department of Informatics Engineering, Faculty of Engineering, University of Porto, Porto, Portugal.
Jazyk:	angličtina
Zdroj:	Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis [Amyloid] 2024 Sep; Vol. 31 (3), pp. 168-178. Date of Electronic Publication: 2024 Apr 08.
DOI:	10.1080/13506129.2024.2332679
Abstrakt:	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. We focused on 1494 female and 1712 male symptomatic ATTRV30M patients. Results are presented alongside a comparison of current with historical records. Clinical and genealogical indicators identify major changes. Results: Overall, analysis of familial data shows the existence of families with both early and late patients (1/6). It identifies long familial follow-up times since patient families tend to be diagnosed over several years. Finally, results show a large difference between parent-child and proband-patient relationships (20-30 years). Conclusions: This study reveals that there has been a shift in patient profile, with a recent increase in male elderly cases, especially regarding probands. It shows that symptomatic patients exhibit less variability towards siblings, when compared to other family members, namely the transmitting ancestors' age of onset. This can influence genetic counselling guidelines.
Databáze:	MEDLINE
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