Evolution after bariatric surgery in patients with genetic mutations related to monogenic obesity

Lucena Morales Cristian Jesus; Rodriguez Andres Lopez; Escandon Laura Larran; Mateo Gavira Isabel Maria; Riscart Jesus Dominguez

doi:10.1530/endoabs.110.EP854

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Endocrine Abstracts (2025) 110 EP854 | DOI: 10.1530/endoabs.110.EP854

ECEESPE2025 ePoster Presentations Metabolism, Nutrition and Obesity (164 abstracts)

Evolution after bariatric surgery in patients with genetic mutations related to monogenic obesity

Cristian Jesús Lucena Morales ¹ , Andrés López Rodríguez ² , Laura Larrán Escandon ¹ , Isabel María Mateo Gavira ¹ & Jesús Dominguez Riscart ³

Author affiliations

¹Hospital Universitario Puerta del Mar, Endocrinology and Nutrition Department, Cádiz, Spain; ²Faculty of Medicine, University of Cádiz, Cadiz, Spain; ³Hospital Universitario Puerta del Mar, Pediatrics and Specific Areas Department, Cadiz, Spain

JOINT1055

Study Objectives: Monogenic obesity, linked to more than 130 identified genes, is often characterized by hyperphagia and early-onset obesity. This study aims to analyze changes in anthropometric and clinical parameters in a cohort of patients with genetically confirmed obesity-related mutations, one year after undergoing bariatric surgery.

MaterialS And Methods: A descriptive, cross-sectional study was conducted on a cohort of subjects with grade 3 or higher obesity and positive genetic findings, managed at the Bariatric Surgery Clinic (Endocrinology) of Puerta del Mar Hospital. An obesity gene panel was used, based on whole-exome sequencing of 80 genes, including copy number variation analysis.

Results: The study included 52 patients meeting the specified criteria. Of these, 79.6% were female. The median age at the time of surgery was 49.46 years. The median age of obesity onset was 11.5 years (range 6–23.5), and 71.1% had a family history of obesity. The majority of patients (75%) underwent vertical sleeve gastrectomy, while the remaining 25% had a gastric bypass. Preoperative weight was 109.52±16.56 kg (BMI 41.19±4.95 kg/m²), and postoperative weight at one year was 81.05±13.45 kg (BMI 30.49±4.47 kg/m²). The percentage of excess weight lost was 58.47±20.06%, the percentage of total weight lost was 25.79±8.16%, and the percentage of excess BMI lost was 69.39±26.16%. Regarding the HQ-CT questionnaire validated for hyperphagia, the median score was 13 (9.75–16). The mean score on the BAROS scale (quality of life) was 5±2.52, with 27.8% achieving excellent outcomes, 27.8% very good, 27.8% good, 5.6% fair, and 11.1% classified as treatment failures.

ConclusionS: Our cohort demonstrates that bariatric surgery can be an effective tool for weight loss, at least in the short term, in individuals with grade 3 obesity and genetic alterations associated with obesity. It would be of interest to compare these results with patients with negative genetic findings and those undergoing medical treatment targeting specific pathways related to MC4R (e.g., setmelanotide).