Hyperphagia Severity in Adults with Bardet-Biedl Syndrome

Bardet-Biedl syndrome is a rare genetic disease caused by primary ciliary dysfunction leading to retinal degeneration, rod–cone dystrophy, polydactyly, hyperphagia, early‐onset obesity, renal dysfunction, hypogonadism, and learning difficulties. Hyperphagia, a pathological insatiable hunger leading to excessive and unusual food intake and persistent, obsessive food-seeking behaviours, is a frequent symptom associated with BBS. This study used a standard structured questionnaire accompanied by an in-depth semi-structured interview to assess hyperphagia severity in adults with BBS living in the UK. The results show that hyperphagia severity is underestimated in adults with BBS, with a high prevalence of severe hyperphagia based on semi-structured interviews. The findings highlight the importance of incorporating semi-structured interviews as a mixed-method approach to provide a more comprehensive assessment of hyperphagia burden in adults with BBS.