open access
Polski
Management of Prader-Willi Syndrome (PWS) in adults — what an endocrinologist needs to know. Recommendations of the Polish Society of Endocrinology and the Polish Society of Paediatric Endocrinology and Diabetology
open access
Abstract
Prader-Willi syndrome (PWS) is a complex genetic disorder characterised by a set of phenotypic traits, which include infantile hypotonia, short stature, and morbid obesity. Over the last 12 years, visible progress has been made in medical care management of PWS patients in Poland. Increasing awareness of the disorder in neonatal and paediatric care has led to early identification of the condition in neonates, followed by the institution of an appropriate dietary regime, introduction of physiotherapy, and early-onset recombinant human growth hormone (rhGH) treatment. Growth hormone (GH) therapy in Poland is conducted within the nationwide framework of the Therapeutic Programme: “Treatment of Prader-Willi Syndrome”. The therapeutic interventions initiated in the paediatric centres need to be continued in multidisciplinary adult care settings. The main aim of PWS clinical management in adulthood is prevention of obesity and its comorbidities, treatment of hormonal disorders, mental health stabilisation, nutritional guidance, as well as on-going physiotherapy. Integrated multidisciplinary therapeutic intervention is necessary if patients with such a complex genetic condition as PWS are to not only achieve an average life expectancy but also to enjoy higher quality of life.
Abstract
Prader-Willi syndrome (PWS) is a complex genetic disorder characterised by a set of phenotypic traits, which include infantile hypotonia, short stature, and morbid obesity. Over the last 12 years, visible progress has been made in medical care management of PWS patients in Poland. Increasing awareness of the disorder in neonatal and paediatric care has led to early identification of the condition in neonates, followed by the institution of an appropriate dietary regime, introduction of physiotherapy, and early-onset recombinant human growth hormone (rhGH) treatment. Growth hormone (GH) therapy in Poland is conducted within the nationwide framework of the Therapeutic Programme: “Treatment of Prader-Willi Syndrome”. The therapeutic interventions initiated in the paediatric centres need to be continued in multidisciplinary adult care settings. The main aim of PWS clinical management in adulthood is prevention of obesity and its comorbidities, treatment of hormonal disorders, mental health stabilisation, nutritional guidance, as well as on-going physiotherapy. Integrated multidisciplinary therapeutic intervention is necessary if patients with such a complex genetic condition as PWS are to not only achieve an average life expectancy but also to enjoy higher quality of life.
Keywords
Prader-Willi Syndrome (PWS), recombinant human growth hormone (rhGH), integrated therapy, rare diseases
About this articleTitle
Management of Prader-Willi Syndrome (PWS) in adults — what an endocrinologist needs to know. Recommendations of the Polish Society of Endocrinology and the Polish Society of Paediatric Endocrinology and Diabetology
Journal
Issue
Article type
Guidelines / Expert consensus
Pages
345-364
Published online
2018-09-13
Page views
4549
Article views/downloads
5610
DOI
Pubmed
Bibliographic record
Endokrynol Pol 2018;69(4):345-364.
Keywords
Prader-Willi Syndrome (PWS)
recombinant human growth hormone (rhGH)
integrated therapy
rare diseases
Authors
Magdalena Góralska
Tomasz Bednarczuk
Marek Rosłon
Maria Libura
Mieczysław Szalecki
Maciej Hilczer
Renata Stawerska
Joanna Smyczyńska
Małgorzata Karbownik-Lewińska
Mieczysław Walczak
Andrzej Lewiński
