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Hereditary transthyretin-mediated amyloidosis with polyneuropathy: baseline anthropometric, demographic and disease characteristics of patients from a reference center

BACKGROUND: Hereditary transthyretin-mediated (hATTR) amyloidosis with polyneuropathy is a rare, inherited, multisystem, and often fatal disease caused by a variant in transthyretin (TTR) gene. Baseline characteristics of patients, especially anthropometric data, are scarce in the literature, and th...

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Autores principales: Sequeira, Vanessa Cristina Cunha, Penetra, Maria Alice, Duarte, Lisa, de Azevedo, Fernanda Reis, Sayegh, Raphael Santa Rosa, Pedrosa, Roberto Coury, Cruz, Márcia Waddington
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Academia Brasileira de Neurologia -ABNEURO 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9648939/
https://www.ncbi.nlm.nih.gov/pubmed/34755769
http://dx.doi.org/10.1590/0004-282X-ANP-2020-0590
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author Sequeira, Vanessa Cristina Cunha
Penetra, Maria Alice
Duarte, Lisa
de Azevedo, Fernanda Reis
Sayegh, Raphael Santa Rosa
Pedrosa, Roberto Coury
Cruz, Márcia Waddington
author_facet Sequeira, Vanessa Cristina Cunha
Penetra, Maria Alice
Duarte, Lisa
de Azevedo, Fernanda Reis
Sayegh, Raphael Santa Rosa
Pedrosa, Roberto Coury
Cruz, Márcia Waddington
author_sort Sequeira, Vanessa Cristina Cunha
collection PubMed
description BACKGROUND: Hereditary transthyretin-mediated (hATTR) amyloidosis with polyneuropathy is a rare, inherited, multisystem, and often fatal disease caused by a variant in transthyretin (TTR) gene. Baseline characteristics of patients, especially anthropometric data, are scarce in the literature, and they are relevant to define effective treatment strategies. OBJECTIVE: This study aimed to describe baseline demographic, anthropometric, and disease characteristics in a cohort of patients from a reference center in Brazil. METHODS: Symptomatic patients not previously included in clinical trials and eligible for treatment were enrolled. Ethnicity, state of residence, age, sex, weight, height, body mass index (BMI), TTR variant, and Polyneuropathy Disability Score (PND) at diagnosis were analyzed. RESULTS: Among the 108 patients enrolled, 58.33% were male, 60.19% were Caucasian, and 83.33% lived in the Southeast region. Mean age was 51.61 (±16.37) years, mean weight was 65.76 (±15.16) kg, mean height was 168.33 (±10.26) cm, and mean BMI was 23.11 (±4.45) kg/m(2). The most prevalent variant was V30M (86.11%). Patients with PND score 0 presenting autonomic neuropathy were 14.81%. Patients with PND score I-II and III-IV were 52.78 and 32.41%, respectively. Mean weight and BMI were significantly lower in patients with sensory-motor manifestations. CONCLUSIONS: This is the largest cohort of patients in Brazil for whom anthropometric characteristics have been described. Baseline demographic, anthropometric, and disease data indicate that delay in diagnosis of hATTR amyloidosis with polyneuropathy is still a problem and that efforts must be made to expedite diagnosis and maximize opportunities for new disease-modifying treatments.
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spelling pubmed-96489392022-12-08 Hereditary transthyretin-mediated amyloidosis with polyneuropathy: baseline anthropometric, demographic and disease characteristics of patients from a reference center Sequeira, Vanessa Cristina Cunha Penetra, Maria Alice Duarte, Lisa de Azevedo, Fernanda Reis Sayegh, Raphael Santa Rosa Pedrosa, Roberto Coury Cruz, Márcia Waddington Arq Neuropsiquiatr Article BACKGROUND: Hereditary transthyretin-mediated (hATTR) amyloidosis with polyneuropathy is a rare, inherited, multisystem, and often fatal disease caused by a variant in transthyretin (TTR) gene. Baseline characteristics of patients, especially anthropometric data, are scarce in the literature, and they are relevant to define effective treatment strategies. OBJECTIVE: This study aimed to describe baseline demographic, anthropometric, and disease characteristics in a cohort of patients from a reference center in Brazil. METHODS: Symptomatic patients not previously included in clinical trials and eligible for treatment were enrolled. Ethnicity, state of residence, age, sex, weight, height, body mass index (BMI), TTR variant, and Polyneuropathy Disability Score (PND) at diagnosis were analyzed. RESULTS: Among the 108 patients enrolled, 58.33% were male, 60.19% were Caucasian, and 83.33% lived in the Southeast region. Mean age was 51.61 (±16.37) years, mean weight was 65.76 (±15.16) kg, mean height was 168.33 (±10.26) cm, and mean BMI was 23.11 (±4.45) kg/m(2). The most prevalent variant was V30M (86.11%). Patients with PND score 0 presenting autonomic neuropathy were 14.81%. Patients with PND score I-II and III-IV were 52.78 and 32.41%, respectively. Mean weight and BMI were significantly lower in patients with sensory-motor manifestations. CONCLUSIONS: This is the largest cohort of patients in Brazil for whom anthropometric characteristics have been described. Baseline demographic, anthropometric, and disease data indicate that delay in diagnosis of hATTR amyloidosis with polyneuropathy is still a problem and that efforts must be made to expedite diagnosis and maximize opportunities for new disease-modifying treatments. Academia Brasileira de Neurologia -ABNEURO 2021-11-30 /pmc/articles/PMC9648939/ /pubmed/34755769 http://dx.doi.org/10.1590/0004-282X-ANP-2020-0590 Text en https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License
spellingShingle Article
Sequeira, Vanessa Cristina Cunha
Penetra, Maria Alice
Duarte, Lisa
de Azevedo, Fernanda Reis
Sayegh, Raphael Santa Rosa
Pedrosa, Roberto Coury
Cruz, Márcia Waddington
Hereditary transthyretin-mediated amyloidosis with polyneuropathy: baseline anthropometric, demographic and disease characteristics of patients from a reference center
title Hereditary transthyretin-mediated amyloidosis with polyneuropathy: baseline anthropometric, demographic and disease characteristics of patients from a reference center
title_full Hereditary transthyretin-mediated amyloidosis with polyneuropathy: baseline anthropometric, demographic and disease characteristics of patients from a reference center
title_fullStr Hereditary transthyretin-mediated amyloidosis with polyneuropathy: baseline anthropometric, demographic and disease characteristics of patients from a reference center
title_full_unstemmed Hereditary transthyretin-mediated amyloidosis with polyneuropathy: baseline anthropometric, demographic and disease characteristics of patients from a reference center
title_short Hereditary transthyretin-mediated amyloidosis with polyneuropathy: baseline anthropometric, demographic and disease characteristics of patients from a reference center
title_sort hereditary transthyretin-mediated amyloidosis with polyneuropathy: baseline anthropometric, demographic and disease characteristics of patients from a reference center
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9648939/
https://www.ncbi.nlm.nih.gov/pubmed/34755769
http://dx.doi.org/10.1590/0004-282X-ANP-2020-0590
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