2nd Edition of International Obesity and Metabolism Conference 2026

Abstract

Objective: Bardet-Biedl syndrome (BBS) is a rare ciliopathy caused by structural or functional defects of non-motile primary cilia, leading to multiple clinical manifestations and complex inheritance patterns. Early diagnosis of BBS remains challenging. This article aims to enhance awareness of BBS through a case report, emphasizing the need for a comprehensive diagnosis combining clinical phenotypes, imaging, and genetic testing, as well as early initiation of multidisciplinary, symptomatic treatment and long-term follow-up.

Methods: This article reports the diagnosis and treatment process of a 17-year-old BBS patient. The diagnosis was confirmed based on clinical manifestations, laboratory test results, imaging findings, and genetic testing. After completing the above evaluations, the patient and their family were educated about the disease, and metformin combined with semaglutide was used for weight loss treatment. A nutrition plan was developed with the nutrition department, and an exercise prescription was designed with the rehabilitation department. Regular follow-ups were conducted. Previous literature was also reviewed to deepen the understanding of BBS.

Results: The patient was obese with a BMI of 33.1 kg/m2, a waist circumference of 110 cm, and a body fat rate of 39.3%. They had polydactyly (treated surgically at age 3), patent foramen ovale (treated surgically at age 4), vaginal atresia (treated with vaginoplasty at age 14), retinitis pigmentosa, amblyopia, mild cognitive impairment, impaired glucose tolerance, insulin resistance, hyperlipidemia, and fatty liver. Genetic testing revealed two heterozygous mutations in the BBS1 gene and one heterozygous mutation in the BBS4 gene. The diagnosis of BBS was confirmed. Due to the lack of approval for semaglutide in China, metformin combined with semaglutide was used for treatment. After one month of intervention, the patient's weight decreased by 3.2 kg, and after three months, postprandial insulin resistance, liver function, and lipid levels improved significantly. After one year of intervention, the patient's weight slightly decreased without adhering to a low-calorie diet, but insulin resistance remained significant. There was no binge eating. During follow-up, health education and lifestyle supervision were strengthened, encouraging the patient to increase interesting and diverse physical activities within their ability, limit sedentary time, and reduce snack intake.

Conclusion: The analysis of this case and the review of previous literature have deepened the understanding of the rare disease BBS. For patients presenting with obesity, vision loss, polydactyly, congenital heart disease, BBS should be considered. Early detection and diagnosis are crucial, and timely multidisciplinary support treatment should be provided. Dynamic monitoring of patient changes is necessary to delay the occurrence of severe complications as much as possible. While providing drug treatment, attention should be paid to the patient's lifestyle and psychological state, and comprehensive support management should be offered.