ESPE Abstracts

Background: In children, severe obesity represents a growing public health concern, with implications for both immediate and long-term health outcomes. We present a complex case of an 8-year-old female with autism spectrum disorder (ASD), systemic sclerosis, and severe obesity, further complicated by insulin resistance and poor metabolic control.

Case Presentation: Laboratory findings indicate liver inflammation or damage, which is consistent with the imaging findings of hepatic steatosis and hepatomegaly (confirmed through US, abdominal CT). Supplementary, the transient elastography (FibroScan) indicates increased liver stiffness (9.2 kPa), suggesting advanced fibrosis (stage F3 Metavir) and moderate hepatic steatosis. These findings corroborate the diagnosis of metabolic fatty liver disease and highlight the need for ongoing monitoring and management to prevent disease progression and complications.

Despite conventional interventions, the patient's metabolic parameters remained poorly controlled, underscoring the challenges posed by severe obesity in the context of complex comorbidities. In this case, considering the complexity of the patient's condition and the presence of multiple comorbidities including autism spectrum disorder, systemic sclerosis, and severe obesity, genetic genome-wide association studies (GWAS) could prove invaluable. By exploring the genetic underpinnings of these conditions, GWAS could help identify potential genetic risk factors, pathways, and novel therapeutic targets, paving the way for personalized treatment strategies and improved management of this challenging case. Comprehensive management strategies, including behavioral interventions, pharmacotherapy, and tailored treatment plans, were implemented to optimize metabolic control and mitigate the impact of rheumatic comorbidities and ASD on overall health outcomes.

Conclusion: This case highlights the critical importance of a multidisciplinary approach in managing pediatric patients with severe obesity and complex comorbidities, including rheumatic disorders and ASD. By integrating expertise from various disciplines, healthcare providers can develop personalized treatment strategies that address the unique needs and challenges of each patient. Further research is needed to evaluate the effectiveness of multidisciplinary interventions in improving metabolic outcomes and enhancing the overall well-being of pediatric patients with severe obesity and associated comorbidities.

Key words: Obesity, GWAS studies, metabolic syndrome, metabolic fatty liver disease.