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

• Type: Article in International Scientific Journal
• Date: 2024

Authors

Maria Pedroto (Author) FCUP; Coelho, T (Author) Other; Fernandes, J (Author) Other; Oliveira, A (Author) Other; Jorge, AM (Author) FCUP; João Mendes-Moreira (Author) FEUP

Journal

Title: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis

Vol. 31

Pages: 168-178

ISSN: 1350-6129

Publisher: Taylor & Francis

Indexing

ISI Web of Knowledge - 0 Citations

Scopus - 0 Citations

Other information

Authenticus ID: P-010-7P2

DOI: 10.1080/13506129.2024.2332679

Abstract (EN): BackgroundHereditary 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.MethodsWe 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.ResultsOverall, 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).ConclusionsThis 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 11