Endocrine and Metabolic Illnesses in Young Adults with Prader–Willi Syndrome

Abstract

Prader–Willi syndrome (PWS) is a rare genetic disorder characterized by an insatiable appetite that leads to morbid obesity. Previous studies reported health problems in adults with PWS. However, studies on younger adults are lacking, and there are no specific studies of endocrine and metabolic illness in this age group. We performed a retrospective cohort study of 68 individuals with PWS aged 19 to 34 years at Samsung Medical Center. The prevalence of endocrine and metabolic illnesses were compared with those in an age-, sex-, and BMI-matched healthy control group. Young adults with PWS had a higher prevalence of metabolic syndrome (35.3% vs. 4.4%), type 2 diabetes mellitus (50.0% vs. 5.4%), hypertension (30.8% vs. 16.1%), dyslipidemia (38.2% vs. 14.7%), decreased bone density (26.4% vs. 0.9%), and sleep apnea (32.3% vs. 4.4%) than controls (all p < 0.05). The PWS group that maintained recombinant human growth (rhGH) treatment in adulthood had a lower probability of having a BMI ≥ 30 at the last follow-up (odds ratio = 0.106 (0.012–0.948), p = 0.045). Endocrine and metabolic illnesses in individuals with PWS may have already started in the early teens; therefore, appropriate screening and early intervention are important. Better understanding of the natural history of PWS and age-related complications will lead to better-quality medical care for individuals with PWS.

Bone Health in Adults With Prader–Willi Syndrome: Clinical Recommendations Based on a Multicenter Cohort Study

“…The prevalence of osteoporosis found in this study is in line with previous studies in adults with PWS that showed a prevalence of 2% to 26% ( 8 , 10–12 , 75 ). However, not all studies performed a systematic screening for osteoporosis using DXA scans, likely leading to an underestimation of the true prevalence in these studies.…”

Dyslipidemia in Pediatric Patients: A Cross-Sectional Study

“…Most of them were diagnosed with either Prader–Willi Syndrome or Down Syndrome. Prader–Willi syndrome is a rare genetic disorder characterized by muscular hypotonia, dysmorphic features, low lean body mass, mental retardation, behavioral abnormalities, and an insatiable appetite that leads to morbid obesity [ 65 , 66 ]. In these patients, persistently high serum levels of ghrelin (a hormone produced by gastric mucosa which normally stimulates short-term food intake during starvation) play a central role in promoting hyperphagia, increasing appetite, weight gain, and obesity, thus increasing the risk of obesity-related comorbidities such as dyslipidemia [ 67 ].…”