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Council","award":["51024"],"award-info":[{"award-number":["51024"]}]},{"name":"Swedish Research Council","award":["2022-06312"],"award-info":[{"award-number":["2022-06312"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background: Prader\u2013Willi Syndrome (PWS) is a rare, genetic, multi-systemic disorder. Its main characteristics are muscular hypotonia, behavioral problems, intellectual disability, endocrine deficiencies, hyperphagia, and a high risk of morbid obesity and related comorbidities. This study aimed to investigate the rate of comorbidity, prescription of endocrine medications, and mortality in individuals with PWS compared to the general population. Methods: The association between PWS and outcomes were investigated in a matched cohort study of individuals born in the period of 1930\u20132018 with data from Swedish national health and welfare registers. Each individual was matched with 50 non-PWS comparisons. The associations between PWS, outcomes and prescribed endocrine medications were estimated through Cox proportional hazard models, presented as Hazard Ratios (HR) with 95% Confidence Intervals (CIs). Results: Among 360 individuals (53% men) with PWS, 16% had diabetes mellitus, 6% heart failure, 4% vein thrombosis, 2% atrial fibrillation, 2% coronary heart disease, and 1% pulmonary embolism. Individuals with PWS had an increased rate of heart failure (HR: 23.85; 95% CI: 14.09\u201340.38), diabetes mellitus (HR: 17.49; 95% CI: 12.87\u201323.74), vein thrombosis (HR: 10.44; 95% CI: 5.69\u201319.13), pulmonary embolism (HR: 5.77; 95% CI: 2.27\u201314.67), atrial fibrillation (HR: 5.19; 95% CI: 2.48\u201310.86), and coronary heart disease (HR: 3.46; 95% CI: 1.50\u20137.97) compared to non-PWS individuals. Somatotropin was prescribed in 63%, antidiabetics in 18%, and thyroid hormones in 16% of the PWS individuals (&lt;1%, 2%, and 3%, respectively, in non-PWS individuals). The rate of mortality was fifteen times higher in PWS than in non-PWS, with a mean age at death of 42 years. Conclusions: The rates of diabetes mellitus and cardiovascular comorbidities were higher in individuals with PWS. As expected, the prescription of somatotropin was high, but the endocrine prescription pattern also reflected the high prevalence of diabetes mellitus and thyroid illness. Although the mean age at death was older than previously reported, a higher awareness and intensified efforts to avoid obesity, as well as the prevention and early treatment of cardiovascular and endocrine comorbidity, are crucial aims in the care of people with PWS.<\/jats:p>","DOI":"10.3390\/jcm14041307","type":"journal-article","created":{"date-parts":[[2025,2,17]],"date-time":"2025-02-17T03:41:47Z","timestamp":1739763707000},"page":"1307","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Comorbidities, Endocrine Medications, and Mortality in Prader\u2013Willi Syndrome\u2014A Swedish Register Study"],"prefix":"10.3390","volume":"14","author":[{"given":"Julia","family":"Giesecke","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine and Surgery, Karolinska Institute, 171 77 Stockholm, Sweden"},{"name":"Department of Endocrinology, Karolinska University Hospital, 171 76 Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Oskarsson","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery, Karolinska Institute, 171 77 Stockholm, Sweden"},{"name":"Department of Endocrinology, St G\u00f6ran\u2019s Hospital, 112 19 Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2970-8593","authenticated-orcid":false,"given":"Maria","family":"Petersson","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery, Karolinska Institute, 171 77 Stockholm, Sweden"},{"name":"Department of Endocrinology, Karolinska University Hospital, 171 76 Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna Skarin","family":"Nordenvall","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery, Karolinska Institute, 171 77 Stockholm, Sweden"},{"name":"Department of Radiology, Karolinska University Hospital, 171 76 Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgio","family":"Tettamanti","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery, Karolinska Institute, 171 77 Stockholm, Sweden"},{"name":"Unit of Epidemiology, Institute of Environmental Medicine, Karolinska Institute, 171 77 Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann","family":"Nordgren","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery, Karolinska Institute, 171 77 Stockholm, Sweden"},{"name":"Department of Clinical Genetics and Genomics, Karolinska University Hospital, 171 76 Stockholm, Sweden"},{"name":"Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, 405 30 G\u00f6teborg, Sweden"},{"name":"Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, 413 45 G\u00f6teborg, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"H\u00f6ybye","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery, Karolinska Institute, 171 77 Stockholm, Sweden"},{"name":"Department of Endocrinology, Karolinska University Hospital, 171 76 Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,2,16]]},"reference":[{"key":"ref_1","unstructured":"Adam, M.P., Feldman, J., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., and Amemiya, A. 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