Introduction: Prader-Willi Syndrome (PWS) is a complex hypothalamic disorder, causing hypotonia, intellectual disability (ID), pituitary hormone deficiencies and hyperphagia. Up to 4% of young patients with PWS die unexpectedly, every year. The mean age of reported deaths in PWS is 29.5 years; 20% of deaths even occur below age 18 years. Mortality data show that more than 50% of deaths are of cardio-pulmonary origin. Morbid obesity, diabetes and hypertension are strong risk factors for cardiovascular mortality. Lack of satiety, the primary problem in PWS, rapidly leads to this morbid obesity if combined with 1) an inadequate diet, 2) insufficient exercise, 3) a lack of education and training of caregivers with regard to PWS-specific behavioural problems and/or 4) pituitary hormone deficiencies reducing exercise tolerance. Growth Hormone (GH) treatment and physiotherapy, often combined, have been shown to improve body composition in the past. We believe that addressing the multifactorial aetiology of PWS in a multidisciplinary (MD) setting can strongly reduce cardiovascular mortality.
Methods: In order to continue MD care for PWS patients after transition to adult endocrinology, we launched a MD outpatients clinic (OPC) for adults with PWS which consists of a specialised dietitian, a physiotherapist, a psychologist and an endocrinologist. We collected clinical data of the first 100 adults with PWS who visited the MD-OPC. We compared patients who had received GH and MD care during childhood (GH/MD+), with those who had not (GH/MD−).
Results: Of the first 100 adults with PWS who visited our MD-OPC, 37 were GH/MD+ and 63 were GH/MD−. We found a striking difference in co-morbidity and cardiovascular risk factors between GH/MD+ and GH/MD− patients. Mean BMI was 26.6 in the GH/MD+ group versus 34.4 in the GH/MD− group (P=0.000077). Diabetes prevalence was ten times higher in the GH/MD− group: 30% versus 3% in the GH/MD+ group (P=0.016). Hypertension was five times more prevalent in the GH/MD- group: 20% versus 4% in the GH/MD+ group (P=0.05).
Conclusion: PWS has a high mortality at very young age of 4%, which is often (50%) due to cardio-respiratory failure. Part of this 50% could stay alive if obesity, diabetes and hypertension are prevented. Multi-disciplinary care from childhood is associated with a lower prevalence of obesity, hypertension and diabetes. By reducing cardio-vascular risk, MD care can prevent painful and expensive complications
27 - 29 Sep 2018
European Society for Paediatric Endocrinology