Endocrine Abstracts

Prader-Willi syndrome (PWS) is a rare, complex genetic disorder resulting from the absence of expression of paternally inherited genes in the chromosome 15 q11.2 q13 region. It’s characterised by hypothalamic dysfunction, hyperphagia, and severe obesity, alongside endocrine and neurodevelopmental complications. Obesity remains the leading cause of morbidity and mortality in adults with PWS, and its management is complicated by behavioural rigidity, impaired satiety regulation, and metabolic dysregulation. While bariatric surgery is considered for some cases, its effectiveness in PWS is limited. Wolf et al’s meta-analysis reports initial excess weight loss of 50-60% at one year, comparable to BMI-matched controls, but with substantial weight regain by year three (down to 20-30%), with outcomes strongly influenced by the type of procedure performed. We present the case of a 30-year-old woman with genetically confirmed PWS and end-stage renal disease (eGFR 9). Her comorbidities include growth hormone deficiency, duplex kidneys, type 2 diabetes, autistic spectrum disorder, hypertension, and obstructive sleep apnoea on CPAP. Her BMI was 52 kg/m² (weight 139.5 kg, height 1.60 m). Despite meeting eGFR criteria for renal transplant, her BMI exceeded the threshold for referral. A target weight of 90 kg (35% reduction) was required for eligibility. She was therefore referred to weight management services. The BMI threshold was established to reduce surgical risk and outcome, as excess weight can affect graft vasculature and increase the risk of graft loss. As she had no living donor, coordinating transplant timing with nadir weight was unpredictable, which complicated eligibility. Furthermore, achieving 35% weight reduction was deemed unfeasible, especially in PWS, where hyperphagia and behavioural rigidity hinder success. Based on these considerations, the Tier 3 and Tier 4 MDT concluded that she is not a candidate for bariatric surgery. She was therefore commenced on haemodialysis and Semaglutide along with behavioural and nutritional support. Her most recent weight is 121 Kg with a BMI of 48, following 11 months on this regimen. This case highlights the ethical tension between transplant eligibility criteria and equitable access to care. While BMI thresholds aim to optimise surgical outcomes, they may inadvertently exclude patients with syndromic obesity whose physiological and behavioural profiles limit weight loss potential. Conversely, proceeding with surgery in the context of poor expected outcomes and increased risk may not be justified. Future research should focus on refining transplant eligibility frameworks, assessing long-term outcomes of weight loss methods in syndromic populations, and creating equitable care pathways.