Endocrine Abstracts

Introduction: A yearly mortality rate of 4% among young adult patients is unacceptable in any patient population. Nevertheless, in Prader-Willi syndrome (PWS), up to 4% of young patients die every year and this situation has been going on for decades. PWS is a complex hypothalamic disorder, combining hypotonia, intellectual disability (ID), pituitary hormone deficiencies and hyperphagia. Due to this lack of satiety, patients can literally eat themselves to death: overeating can cause morbid obesity, complicated by diabetes and secondary cardiovascular complications, or stomach rupture. The mean age of reported deaths in PWS is 29.5 years; 20% of deaths even occur below age 18 years and mortality is often unexpected. Autopsy reports show that in some cases, the cause of death is food-related, like gastrointestinal perforation and aspiration/choking due to rapid consumption of food. However, in half of the patients, the cause of death turns out to be cardiovascular origin or obesity-related respiratory failure. These severe complications can be prevented if Prader-Willi associated obesity is managed effectively in a multidisciplinary setting.

Methods: In order to optimize care for patients with this complex syndrome, we have launched a multidisciplinary outpatients clinic (OPC) for adults with PWS, consisting of an endocrinologist, an ID-physician, a physiotherapist, an ID-dietitian and a neuropsychologist. We have analysed the clinical data of the patients who visited the multidisciplinary OPC including medical histories and physical and biochemical measurements.

Results: Among the first 90 patients visiting the multidisciplinary OPC, we found a striking number of undetected and untreated health problems, like untreated hypogonadism (also present in lean PWS adults), untreated osteoporosis, untreated diabetes, untreated hypothyroidism and obesity. Although half of the patients was obese, 23% of patients exercised less than 30 min per day and one third was not on a diet. Caregivers often reported stealing and merchandising for food, meaning that diets are doomed to fail unless carefully supervised. Nevertheless, 25% of patients lived under incompetent supervision.

Conclusion: During the first two years of the multidisciplinary OPC, we detected a striking number of untreated health problems among adults with PWS. Most patients have at least 3 serious health problems. The combination of complex health issues among adults with PWS requires multidisciplinary care. The multidisciplinary OPC for adults with PWS will prevent painful and expensive complications and reduce mortality in this vulnerable patient population.