OBJECTIVES: Rare genetic disorders of obesity are characterized by insatiable hunger (hyperphagia) and early-onset severe obesity. However, the associated burden of illness (BOI) and effect on quality of life (QoL) are not well defined, given the limited data in individuals with rare genetic disorders of obesity. This study assessed BOI and QoL in individuals with severe obesity and self-reported hyperphagia.

METHODS: BOI and QoL (assessed by 5-level EuroQol 5-domain scale, including an index score and visual analog scale [VAS]), evaluated over the past 12 months, were assessed in a web-based survey. The weighted averages of index and VAS scores for EU5 countries (Germany, France, United Kingdom, Italy, and Spain) were calculated. Other assessments included personal activities, physical function, and emotional well-being. Individuals with self-reported hyperphagia and either confirmed genetic obesity disorder (adults aged ≥18 years: body mass index [BMI] ≥30 kg/m²; children aged <18 years: BMI >95th percentile) or clinical diagnosis of severe obesity (adults aged ≥18 years: BMI ≥40 kg/m²; children aged <18 years: BMI ≥99th percentile) were included. Caregiver questionnaires included participants aged <18 years or those with impaired cognition.

RESULTS: Fifty-six adults and 4 caregivers were enrolled. Of 56 adult participants, 70% reported BMI ≥40-50 kg/m² and 30% reported BMI >50 kg/m²; 40% of all participants self-reported experiencing hyperphagia in the past year. The percentages of participants reporting severe-to-extremely severe pain/discomfort and anxiety/depression and severe problems doing usual activities were 32%, 32%, and 18%, respectively. Mean index (0.60) and VAS (49.5) scores were low compared with the EU5 general population (index: 0.89; VAS: 77.8). Participants reported painful or stiff joints (65%), always or almost always disliking themselves (44%), and feelings of hopelessness (46%).

CONCLUSIONS: Individuals with severe obesity experience worsened QoL. The burden of severe obesity and the effect of hyperphagia on this burden merits further investigation.