Prader-Willi Syndrome (PWS)

Abstract

A 23-year-old male with a history of Prader-Willi syndrome (PWS) comes for an initial visit for obesity management. His parents, who accompany him, report that the patient is now at his highest weight, after a failed attempt to live in a group home where his food intake was not being closely monitored. Three years ago, while living at home, he achieved his lowest adult weight, at 95 kg, through a rigorous regime including a low-calorie diet and physical activity, closely monitored by his parents. However, as the patient became increasingly aggressive and oppositional due to his uncontrollable hyperphagia and behavioral issues, his parents decided he should live in a group home. After 6 months in the group home, the patient reached his highest adult weight, at 130 kg, and developed prediabetes, with a hemoglobin A1c of 5.9%. His height is 5′7″ and his BMI is 45. He also has mild hypertension and sleep apnea. The patient now is back at home, living with his parents, and with the help of an aide, they have been able to restrict his access to food. The patient is described as having an uncontrollable appetite, and if his parents and caretaker forget to lock the refrigerator and kitchen cabinets, the patient will eat all edibles in sight. He has been calmer on the current medications but still grows frustrated with being hungry “all the time.” The patient also displays significant skin picking. In terms of his past medical history, he had hypotonia, feeding difficulties, and failure to thrive during infancy. He walked at 12 months and had normal verbal development. He rapidly gained weight after age 4 and was already obese by age 8. As a teenager, he started to display aggressive behaviors, growing defiant and at times physically threatening when told he could not eat. He developed more severe obesity after being started on antipsychotics and mood stabilizers for behavioral problems. Testing at age 17 revealed an IQ of 70. Surgical history includes orchidopexy at 18 months of age. His current medications include metformin, aripiprazole, fluoxetine, propranolol, and testosterone gel. His parents heard of other patients with PWS being treated with a GLP-1 agonist and would like to consider that option for their son. The patient is an only child.