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Clinical, genetic and quality-of-life study of a cohort of adult patients with tuberous sclerosis
BACKGROUND AND OBJECTIVE: Tuberous sclerosis (TS) is a condition whose manifestations in childhood have been extensively described, but whose presentation in adults is less well known. This study describes the clinical and genetic characteristics, therapeutic management and quality of life of a coho...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8165982/ https://www.ncbi.nlm.nih.gov/pubmed/34059113 http://dx.doi.org/10.1186/s13023-021-01878-2 |
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author | De Sautu De Borbón, Elena Cristina Guerra Vales, Juan Manuel Lumbreras Bermejo, Carlos Guerrero Ramos, Felix Buj Padilla, María José González de la Aleja, Jesús Morales Conejo, Montserrat |
author_facet | De Sautu De Borbón, Elena Cristina Guerra Vales, Juan Manuel Lumbreras Bermejo, Carlos Guerrero Ramos, Felix Buj Padilla, María José González de la Aleja, Jesús Morales Conejo, Montserrat |
author_sort | De Sautu De Borbón, Elena Cristina |
collection | PubMed |
description | BACKGROUND AND OBJECTIVE: Tuberous sclerosis (TS) is a condition whose manifestations in childhood have been extensively described, but whose presentation in adults is less well known. This study describes the clinical and genetic characteristics, therapeutic management and quality of life of a cohort of adult patients with TS. A comparative study of the characteristics of patients diagnosed in childhood and adulthood is also carried out. MATERIAL AND METHODS: This observational, retrospective, cross-sectional study included a large cohort of adult patients (≥ 16 years old) followed for 5 years in a specific rare diseases unit. RESULTS: Fifty-seven patients with a diagnosis of tuberous sclerosis were included, more than 50% of whom were diagnosed as adults. The mean age of the patients was 42 years (20–86). The central nervous system was the main area affected (97%), followed by the skin (80.7%) and kidneys (73%). The most frequent genetic alteration was a mutation in the TSC2 gene (47.7%). Among patients diagnosed in adulthood, there was less neurological involvement, with less frequency of epileptic seizures (30.8% vs 60.79% of patients diagnosed in childhood) and astrocytomas (3.8% vs 53.6%), less intellectual disability (11.5% vs 71.4%) and less expressiveness of the condition. 42% of patients were treated with mTOR pathway inhibitors, and presence of an angiomyolipoma was the main indication. In a quality-of-life analysis, the means of the summary indices were below the scores of the average Spanish population: (47.42 (SD ± 9.82) on the physical health scale, 45.61 (SD ± 7.99) on the mental health scale) versus 50 (SD ± 10) for the general population. CONCLUSIONS: Up to 50% of adult patients with TS were diagnosed in adulthood, and the condition is less severe with less frequent epileptic seizures and intellectual disability. 42% require treatment with mTOR inhibitors, in most cases due to the presence of AMLs. The quality of life of adult patients with TS is diminished compared to the general population. |
format | Online Article Text |
id | pubmed-8165982 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-81659822021-06-02 Clinical, genetic and quality-of-life study of a cohort of adult patients with tuberous sclerosis De Sautu De Borbón, Elena Cristina Guerra Vales, Juan Manuel Lumbreras Bermejo, Carlos Guerrero Ramos, Felix Buj Padilla, María José González de la Aleja, Jesús Morales Conejo, Montserrat Orphanet J Rare Dis Research BACKGROUND AND OBJECTIVE: Tuberous sclerosis (TS) is a condition whose manifestations in childhood have been extensively described, but whose presentation in adults is less well known. This study describes the clinical and genetic characteristics, therapeutic management and quality of life of a cohort of adult patients with TS. A comparative study of the characteristics of patients diagnosed in childhood and adulthood is also carried out. MATERIAL AND METHODS: This observational, retrospective, cross-sectional study included a large cohort of adult patients (≥ 16 years old) followed for 5 years in a specific rare diseases unit. RESULTS: Fifty-seven patients with a diagnosis of tuberous sclerosis were included, more than 50% of whom were diagnosed as adults. The mean age of the patients was 42 years (20–86). The central nervous system was the main area affected (97%), followed by the skin (80.7%) and kidneys (73%). The most frequent genetic alteration was a mutation in the TSC2 gene (47.7%). Among patients diagnosed in adulthood, there was less neurological involvement, with less frequency of epileptic seizures (30.8% vs 60.79% of patients diagnosed in childhood) and astrocytomas (3.8% vs 53.6%), less intellectual disability (11.5% vs 71.4%) and less expressiveness of the condition. 42% of patients were treated with mTOR pathway inhibitors, and presence of an angiomyolipoma was the main indication. In a quality-of-life analysis, the means of the summary indices were below the scores of the average Spanish population: (47.42 (SD ± 9.82) on the physical health scale, 45.61 (SD ± 7.99) on the mental health scale) versus 50 (SD ± 10) for the general population. CONCLUSIONS: Up to 50% of adult patients with TS were diagnosed in adulthood, and the condition is less severe with less frequent epileptic seizures and intellectual disability. 42% require treatment with mTOR inhibitors, in most cases due to the presence of AMLs. The quality of life of adult patients with TS is diminished compared to the general population. BioMed Central 2021-05-31 /pmc/articles/PMC8165982/ /pubmed/34059113 http://dx.doi.org/10.1186/s13023-021-01878-2 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Research De Sautu De Borbón, Elena Cristina Guerra Vales, Juan Manuel Lumbreras Bermejo, Carlos Guerrero Ramos, Felix Buj Padilla, María José González de la Aleja, Jesús Morales Conejo, Montserrat Clinical, genetic and quality-of-life study of a cohort of adult patients with tuberous sclerosis |
title | Clinical, genetic and quality-of-life study of a cohort of adult patients with tuberous sclerosis |
title_full | Clinical, genetic and quality-of-life study of a cohort of adult patients with tuberous sclerosis |
title_fullStr | Clinical, genetic and quality-of-life study of a cohort of adult patients with tuberous sclerosis |
title_full_unstemmed | Clinical, genetic and quality-of-life study of a cohort of adult patients with tuberous sclerosis |
title_short | Clinical, genetic and quality-of-life study of a cohort of adult patients with tuberous sclerosis |
title_sort | clinical, genetic and quality-of-life study of a cohort of adult patients with tuberous sclerosis |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8165982/ https://www.ncbi.nlm.nih.gov/pubmed/34059113 http://dx.doi.org/10.1186/s13023-021-01878-2 |
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