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Bone Health in Adults With Prader–Willi Syndrome: Clinical Recommendations Based on a Multicenter Cohort Study

CONTEXT: Prader–Willi syndrome (PWS) is a rare complex genetic syndrome, characterized by delayed psychomotor development, hypotonia, and hyperphagia. Hormone deficiencies such as hypogonadism, hypothyroidism, and growth hormone deficiency are common. The combination of hypotonia, low physical activ...

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Autores principales: van Abswoude, Denise H, Pellikaan, Karlijn, Rosenberg, Anna G W, Davidse, Kirsten, Coupaye, Muriel, Høybye, Charlotte, Markovic, Tania P, Grugni, Graziano, Crinò, Antonino, Caixàs, Assumpta, Poitou, Christine, Mosbah, Helena, Weir, Tessa, van Vlimmeren, Leo A, Rutges, Joost P H J, De Klerk, Luuk W L, Zillikens, M Carola, van der Lely, Aart J, de Graaff, Laura C G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9759176/
https://www.ncbi.nlm.nih.gov/pubmed/36149817
http://dx.doi.org/10.1210/clinem/dgac556
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author van Abswoude, Denise H
Pellikaan, Karlijn
Rosenberg, Anna G W
Davidse, Kirsten
Coupaye, Muriel
Høybye, Charlotte
Markovic, Tania P
Grugni, Graziano
Crinò, Antonino
Caixàs, Assumpta
Poitou, Christine
Mosbah, Helena
Weir, Tessa
van Vlimmeren, Leo A
Rutges, Joost P H J
De Klerk, Luuk W L
Zillikens, M Carola
van der Lely, Aart J
de Graaff, Laura C G
author_facet van Abswoude, Denise H
Pellikaan, Karlijn
Rosenberg, Anna G W
Davidse, Kirsten
Coupaye, Muriel
Høybye, Charlotte
Markovic, Tania P
Grugni, Graziano
Crinò, Antonino
Caixàs, Assumpta
Poitou, Christine
Mosbah, Helena
Weir, Tessa
van Vlimmeren, Leo A
Rutges, Joost P H J
De Klerk, Luuk W L
Zillikens, M Carola
van der Lely, Aart J
de Graaff, Laura C G
author_sort van Abswoude, Denise H
collection PubMed
description CONTEXT: Prader–Willi syndrome (PWS) is a rare complex genetic syndrome, characterized by delayed psychomotor development, hypotonia, and hyperphagia. Hormone deficiencies such as hypogonadism, hypothyroidism, and growth hormone deficiency are common. The combination of hypotonia, low physical activity, and hypogonadism might lead to a decrease in bone mass and increase in fracture risk. Moreover, one would expect an increased risk of scoliosis due to hypotonia and low physical activity. OBJECTIVE: To study the prevalence and risk factors for skeletal problems (reduced bone mineral density, fractures, and scoliosis) in adults with PWS. METHODS: We retrospectively collected patient characteristics, medical history, medication, biochemical measurements, dual-energy X-ray absorptiometry scans, and spinal X-rays and reviewed the current literature. RESULTS: We included 354 adults with PWS (median age 31 years; 43% males), of whom 51 (14%) had osteoporosis (T-score below −2.5) and 143 (54%) had osteopenia (T-score −1 to −2.5). The most prevalent modifiable risk factors for osteoporosis were hypogonadism, insufficient dairy intake, sedentary lifestyle, and corticosteroid use. Male sex was associated with osteoporosis (P = .005). Growth hormone treatment was not associated with osteoporosis. A history of vertebral fractures was present in 10 (3%) and nonvertebral fractures in 59 (17%). Scoliosis was present in 263 (80%), but no modifiable risk factors were identified. CONCLUSION: Besides scoliosis, osteoporosis is common in adults with PWS. Based on the literature and the risk factors for osteoporosis found in our cohort, we provide practical clinical recommendations to avoid skeletal complications in these vulnerable patients.
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spelling pubmed-97591762022-12-19 Bone Health in Adults With Prader–Willi Syndrome: Clinical Recommendations Based on a Multicenter Cohort Study van Abswoude, Denise H Pellikaan, Karlijn Rosenberg, Anna G W Davidse, Kirsten Coupaye, Muriel Høybye, Charlotte Markovic, Tania P Grugni, Graziano Crinò, Antonino Caixàs, Assumpta Poitou, Christine Mosbah, Helena Weir, Tessa van Vlimmeren, Leo A Rutges, Joost P H J De Klerk, Luuk W L Zillikens, M Carola van der Lely, Aart J de Graaff, Laura C G J Clin Endocrinol Metab Clinical Research Article CONTEXT: Prader–Willi syndrome (PWS) is a rare complex genetic syndrome, characterized by delayed psychomotor development, hypotonia, and hyperphagia. Hormone deficiencies such as hypogonadism, hypothyroidism, and growth hormone deficiency are common. The combination of hypotonia, low physical activity, and hypogonadism might lead to a decrease in bone mass and increase in fracture risk. Moreover, one would expect an increased risk of scoliosis due to hypotonia and low physical activity. OBJECTIVE: To study the prevalence and risk factors for skeletal problems (reduced bone mineral density, fractures, and scoliosis) in adults with PWS. METHODS: We retrospectively collected patient characteristics, medical history, medication, biochemical measurements, dual-energy X-ray absorptiometry scans, and spinal X-rays and reviewed the current literature. RESULTS: We included 354 adults with PWS (median age 31 years; 43% males), of whom 51 (14%) had osteoporosis (T-score below −2.5) and 143 (54%) had osteopenia (T-score −1 to −2.5). The most prevalent modifiable risk factors for osteoporosis were hypogonadism, insufficient dairy intake, sedentary lifestyle, and corticosteroid use. Male sex was associated with osteoporosis (P = .005). Growth hormone treatment was not associated with osteoporosis. A history of vertebral fractures was present in 10 (3%) and nonvertebral fractures in 59 (17%). Scoliosis was present in 263 (80%), but no modifiable risk factors were identified. CONCLUSION: Besides scoliosis, osteoporosis is common in adults with PWS. Based on the literature and the risk factors for osteoporosis found in our cohort, we provide practical clinical recommendations to avoid skeletal complications in these vulnerable patients. Oxford University Press 2022-09-23 /pmc/articles/PMC9759176/ /pubmed/36149817 http://dx.doi.org/10.1210/clinem/dgac556 Text en © The Author(s) 2022. Published by Oxford University Press on behalf of the Endocrine Society. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs licence (https://creativecommons.org/licenses/by-nc-nd/4.0/), which permits non-commercial reproduction and distribution of the work, in any medium, provided the original work is not altered or transformed in any way, and that the work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Clinical Research Article
van Abswoude, Denise H
Pellikaan, Karlijn
Rosenberg, Anna G W
Davidse, Kirsten
Coupaye, Muriel
Høybye, Charlotte
Markovic, Tania P
Grugni, Graziano
Crinò, Antonino
Caixàs, Assumpta
Poitou, Christine
Mosbah, Helena
Weir, Tessa
van Vlimmeren, Leo A
Rutges, Joost P H J
De Klerk, Luuk W L
Zillikens, M Carola
van der Lely, Aart J
de Graaff, Laura C G
Bone Health in Adults With Prader–Willi Syndrome: Clinical Recommendations Based on a Multicenter Cohort Study
title Bone Health in Adults With Prader–Willi Syndrome: Clinical Recommendations Based on a Multicenter Cohort Study
title_full Bone Health in Adults With Prader–Willi Syndrome: Clinical Recommendations Based on a Multicenter Cohort Study
title_fullStr Bone Health in Adults With Prader–Willi Syndrome: Clinical Recommendations Based on a Multicenter Cohort Study
title_full_unstemmed Bone Health in Adults With Prader–Willi Syndrome: Clinical Recommendations Based on a Multicenter Cohort Study
title_short Bone Health in Adults With Prader–Willi Syndrome: Clinical Recommendations Based on a Multicenter Cohort Study
title_sort bone health in adults with prader–willi syndrome: clinical recommendations based on a multicenter cohort study
topic Clinical Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9759176/
https://www.ncbi.nlm.nih.gov/pubmed/36149817
http://dx.doi.org/10.1210/clinem/dgac556
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