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Improved health-related quality of life in patients treated with topical sirolimus for facial angiofibroma associated with tuberous sclerosis complex

BACKGROUND: Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder forming hamartomas throughout the body. Facial angiofibromas (FAs) occur in 75% of TSC patients, which are often enlarged, impairing the appearance of the face, and reducing the patient’s quality of life (QOL). The ai...

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Autores principales: Hatano, Takashi, Ohno, Yuki, Imai, Yu, Moritake, Jun, Endo, Katsuhisa, Tamari, Mayumi, Egawa, Shin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7268220/
https://www.ncbi.nlm.nih.gov/pubmed/32487130
http://dx.doi.org/10.1186/s13023-020-01417-5
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author Hatano, Takashi
Ohno, Yuki
Imai, Yu
Moritake, Jun
Endo, Katsuhisa
Tamari, Mayumi
Egawa, Shin
author_facet Hatano, Takashi
Ohno, Yuki
Imai, Yu
Moritake, Jun
Endo, Katsuhisa
Tamari, Mayumi
Egawa, Shin
author_sort Hatano, Takashi
collection PubMed
description BACKGROUND: Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder forming hamartomas throughout the body. Facial angiofibromas (FAs) occur in 75% of TSC patients, which are often enlarged, impairing the appearance of the face, and reducing the patient’s quality of life (QOL). The aim of this study was to characterize the impact of topical sirolimus treatment on the health-related QOL in patients with FA associated with TSC. METHODS: We investigated a total of 33 patients who received sirolimus gel treatment for FA associated with TSC and assessed the changes in the health-related QOL using the Medical Outcomes Study 36-Item Short Form (SF-36) Health Survey. SF-36 surveys were performed before and after 3 months of treatment. The conditions of the patients after using the sirolimus gel were categorized into the following three categories: “improved,” “unchanged,” and “aggravated.” Adverse events were investigated using the CTCAE v5.0-JCOG. RESULTS: The median age of the patients was 25 (range 14–55) years. After 3 months of sirolimus gel treatment, three scale scores of the SF-36, vitality (VT), social function (SF), and mental health (MH), were significantly improved compared to before the treatment. The VT and SF in patients who had improved FA were significantly better than those in the other patients. There were no significant differences in any scale scores between patients with and without adverse events at 3 months after the initiation of sirolimus gel treatment. CONCLUSIONS: This is the first report regarding improved health-related quality of life in patients treated with sirolimus gel for FA associated with TSC by using the SF-36. The three scale scores associated with mental health were significantly improved compared to before the treatment. The health-related QOL in patients receiving sirolimus gel treatment is more strongly affected by the treatment efficacy than adverse events. MINI-ABSTRACT: Sirolimus gel treatment improves the health-related QOL in patients with FA associated with TSC.
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spelling pubmed-72682202020-06-07 Improved health-related quality of life in patients treated with topical sirolimus for facial angiofibroma associated with tuberous sclerosis complex Hatano, Takashi Ohno, Yuki Imai, Yu Moritake, Jun Endo, Katsuhisa Tamari, Mayumi Egawa, Shin Orphanet J Rare Dis Research BACKGROUND: Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder forming hamartomas throughout the body. Facial angiofibromas (FAs) occur in 75% of TSC patients, which are often enlarged, impairing the appearance of the face, and reducing the patient’s quality of life (QOL). The aim of this study was to characterize the impact of topical sirolimus treatment on the health-related QOL in patients with FA associated with TSC. METHODS: We investigated a total of 33 patients who received sirolimus gel treatment for FA associated with TSC and assessed the changes in the health-related QOL using the Medical Outcomes Study 36-Item Short Form (SF-36) Health Survey. SF-36 surveys were performed before and after 3 months of treatment. The conditions of the patients after using the sirolimus gel were categorized into the following three categories: “improved,” “unchanged,” and “aggravated.” Adverse events were investigated using the CTCAE v5.0-JCOG. RESULTS: The median age of the patients was 25 (range 14–55) years. After 3 months of sirolimus gel treatment, three scale scores of the SF-36, vitality (VT), social function (SF), and mental health (MH), were significantly improved compared to before the treatment. The VT and SF in patients who had improved FA were significantly better than those in the other patients. There were no significant differences in any scale scores between patients with and without adverse events at 3 months after the initiation of sirolimus gel treatment. CONCLUSIONS: This is the first report regarding improved health-related quality of life in patients treated with sirolimus gel for FA associated with TSC by using the SF-36. The three scale scores associated with mental health were significantly improved compared to before the treatment. The health-related QOL in patients receiving sirolimus gel treatment is more strongly affected by the treatment efficacy than adverse events. MINI-ABSTRACT: Sirolimus gel treatment improves the health-related QOL in patients with FA associated with TSC. BioMed Central 2020-06-01 /pmc/articles/PMC7268220/ /pubmed/32487130 http://dx.doi.org/10.1186/s13023-020-01417-5 Text en © The Author(s) 2020 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/. The Creative Commons Public Domain Dedication waiver (http://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
Hatano, Takashi
Ohno, Yuki
Imai, Yu
Moritake, Jun
Endo, Katsuhisa
Tamari, Mayumi
Egawa, Shin
Improved health-related quality of life in patients treated with topical sirolimus for facial angiofibroma associated with tuberous sclerosis complex
title Improved health-related quality of life in patients treated with topical sirolimus for facial angiofibroma associated with tuberous sclerosis complex
title_full Improved health-related quality of life in patients treated with topical sirolimus for facial angiofibroma associated with tuberous sclerosis complex
title_fullStr Improved health-related quality of life in patients treated with topical sirolimus for facial angiofibroma associated with tuberous sclerosis complex
title_full_unstemmed Improved health-related quality of life in patients treated with topical sirolimus for facial angiofibroma associated with tuberous sclerosis complex
title_short Improved health-related quality of life in patients treated with topical sirolimus for facial angiofibroma associated with tuberous sclerosis complex
title_sort improved health-related quality of life in patients treated with topical sirolimus for facial angiofibroma associated with tuberous sclerosis complex
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7268220/
https://www.ncbi.nlm.nih.gov/pubmed/32487130
http://dx.doi.org/10.1186/s13023-020-01417-5
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