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A multicentric study of the disease risks and first manifestations in Hereditary transthyretin amyloidosis (ATTRv): insights for an earlier diagnosis
Department of Neurology, Henri Mondor University Hospital, APHP, Créteil, France; Paris Est-Créteil University, Créteil, France; Inserm U.955, Institut Mondor de Recherche Biomédicale (IMRB), Créteil, France.
Department of Neurology, Henri Mondor University Hospital, APHP, Créteil, France; Paris Est-Créteil University, Créteil, France; Inserm U.955, Institut Mondor de Recherche Biomédicale (IMRB), Créteil, France.
Umeå University, Faculty of Medicine, Wallenberg Centre for Molecular Medicine at Umeå University (WCMM). Umeå University, Faculty of Medicine, Department of Public Health and Clinical Medicine, Section of Medicine.
Umeå University, Faculty of Medicine, Wallenberg Centre for Molecular Medicine at Umeå University (WCMM). Umeå University, Faculty of Medicine, Department of Public Health and Clinical Medicine, Section of Medicine.ORCID iD: 0000-0003-2874-7643
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2023 (English)In: Amyloid: Journal of Protein Folding Disorders, ISSN 1350-6129, E-ISSN 1744-2818, Vol. 30, no 3, p. 313-320Article in journal (Refereed) Published
Abstract [en]

Background: In hereditary transthyretin amyloidosis (ATTRv), early manifestation and age at onset (AO) may vary strikingly. We assessed the disease’risk (penetrance), AO and initial features in ATTRv families to gain insights on the early disease presentation. Methods: Genealogical information, AO and first disease manifestations were collected in ATTRv families, from Sweden, Italy (Sicily), Spain (Mallorca), France, Turkey, Brazil. Penetrance was computed using a non-parametric survival method. Results: We analysed 258 TTRV30M kindreds and 84 carrying six other variants (TTRT49A, F64L, S77Y, S77F, E89Q, I107V). In ATTRV30M families, the earliest disease risk was found at age 20 years in the Portuguese and Mallorcan families and at age 30-35 years, in the French and Swedish groups. The risks were higher in men and in carriers of maternal descent. In families carrying TTR-nonV30M variants, the earliest disease risk ranged from 30 y-o in TTRT49A to 55 y-o in TTRI107V families. Peripheral neuropathy symptoms were the most frequent initial manifestations. Among patients carrying TTRnonV30M variants, about 25% had an initial cardiac phenotype, one third a mixed phenotype. Conclusion: Our work provided solid data on the risks and early features of ATTRv in a spectrum of families to enhance an early diagnosis and treatment.

Place, publisher, year, edition, pages
Taylor & Francis, 2023. Vol. 30, no 3, p. 313-320
Keywords [en]
amyloid polyneuropathy, Genetics, penetrance, peripheral neuropathy, transthyretin
National Category
Medical Genetics Neurology
Identifiers
URN: urn:nbn:se:umu:diva-205361DOI: 10.1080/13506129.2023.2178891ISI: 000935256100001Scopus ID: 2-s2.0-85148588708OAI: oai:DiVA.org:umu-205361DiVA, id: diva2:1746764
Available from: 2023-03-29 Created: 2023-03-29 Last updated: 2023-09-22Bibliographically approved

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Olsson, MalinAnan, Intissar

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Wallenberg Centre for Molecular Medicine at Umeå University (WCMM)Section of Medicine
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Amyloid: Journal of Protein Folding Disorders
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