ESPE2024 Poster Category 2 Fat, Metabolism and Obesity (39 abstracts)
Evaluation of metabolic syndrome risk using metabolic syndrome z-score in Bardet-Biedl Syndrome patients with various genotypes
Tugce Kandemir 1 , Ummahan Tercan 1 , Ozge Bayrak Demirel 1 , Behiye Tugce Yavuz 2 , Volkan Karaman 2 , Asli Derya Kardelen Al 1 , Ayca Dilruba Aslanger 2 , Melek Yildiz 1 , Sukran Poyrazoglu 1 , Firdevs Bas 1 , Zehra Oya Uyguner 2 & Feyza Darendeliler 1
1Istanbul University, Istanbul Faculty of Medicine, Department of Pediatric Endocrinology, Istanbul, Turkey. 2Istanbul University, Istanbul Faculty of Medicine, Department of Medical Genetics, Istanbul, Turkey
Background: Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive, clinically and genetically heterogeneous, pleiotropic disease characterized by the immotile primary cilia, leading to an MC4R pathway impairment. In addition to syndromic features, patients present with hyperphagia, early-onset obesity, metabolic syndrome (MetS) and increased risk of type 2 diabetes. Here, we aimto describe metabolic features and MetS z-score in a group of rare BBS cases.
Methods: A total of 57 cases with BBS were evaluated for the study. Fourteen molecularly diagnosed cases from 12 families (F/M:7/7) who underwent metabolic evaluation and active follow-up were included. Clinical, laboratory and genetic evaluation results were recorded from the files. MetS risk score was calculated. Eight cases were molecularly diagnosed with the Rare Obesity Advanced Diagnosis (ROAD)™ genetic testing program.
Results: The median age at diagnosis was 4.9 (0.5–18.6) years. The median age at the onset of weight gain and duration of follow-up were 0.5 (0.2–6) and 5.3 (0.5–12.2) years, respectively. The rate of consanguineous marriage was 79%. The median BMI SDS and waist circumference SDS was 2.9 (2–3.9) and 4 (2.8-4.9), respectively. Metabolic problems included elevated blood pressure/hypertension in 64.3%, dyslipidemia in 85.7%, and insulin resistance in 71.4% of the patients. One patient was diagnosed with type 2 diabetes. Fifty percent of cases had hepatosteatosis. Genetic distribution of the cases was heterogeneous (BBS1, BBS4, BBS5, BBS7, BBS8, BBS10), with BBS2 (n = 4, 28.5%) and BBS9 (n = 3, 21.4%) being the most frequent genotypes. MetS occurred in 70% of all cases above 10 years and in 3 out of 4 cases in BBS2. The median MetS z-score was 1.6 (0.3–1.94), and similar in terms of gender. MetS z-score was not correlated with age, BMI SDS, waist circumference SDS, metabolic parameters and BBS genotype. The MetS z-score was increased in half of BBS patients under 10 years.
Conclusion: In individuals with BBS, the incidence of MetS is markedly increased among patients aged 10 years and older. Remarkable elevation in MetS z-score was observed in patients less than 10 years, as well. BBS patients should closely be monitorized due to increased risk of MetS in childhood. It seems to be important to treat obesity appropriately and effectively from early ages in BBS patients.
Keywords: Bardet-Biedl Syndrome, metabolic syndrome, metabolic syndrome z-score, pediatric
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