Impact of early imaging-based screening on outcomes in young patients with von Hippel-Lindau disease: A retrospective study.

Abstract

e22506 Background: Von Hippel-Lindau (VHL) disease is a hereditary condition predisposing individuals to multisystem tumor development. Early detection and intervention are critical to improving outcomes, particularly in young patients. While VHL management guidelines are evolving, limited data exist regarding the impact of early imaging-based screening on outcomes in young patients. This study evaluates the imaging-based screening, and management outcomes in patients under 30 years of age with VHL, emphasizing the effectiveness of early screening guided by magnetic resonance imaging (MRI) and computed tomography (CT). Methods: A retrospective cohort study was conducted between 2018-2024 involving patients under 30 years of age diagnosed with VHL at our institution. Clinical data, including demographic information, family history, and genetic testing, were collected. Imaging findings from routine MRI and CT scan were reviewed to identify VHL-related lesions in the central nervous system, renal, pancreatic, and other organ systems. Management strategies, including surgical, pharmacologic, and observational approaches, were reviewed. Progression-free survival (PFS) was defined as the time from the initial diagnosis or intervention to either documented disease progression, determined via RECIST criteria and serial imaging (MRI and CT), or death from any cause. Imaging was performed at regular intervals (every 6–12 months), and Kaplan-Meier survival analysis was used to estimate PFS. Results: A total of 6 patients were included in the study, with a mean age of 19 years. Routine imaging detected asymptomatic lesions in 5 out of 6 patients, leading to early interventions in all these cases. Surgical management showed favorable outcomes with minimal complications in all 5 patients. Pharmacologic management, including targeted therapies like Belzutifan, delayed lesion progression in pharmacologically managed cases. Median PFS was 18 months longer in patients undergoing early interventions compared to those managed conservatively. Regular imaging intervals were associated with a 60% reduction in advanced disease presentation. Notably, the study highlights the importance of early diagnosis and management in improving both PFS and clinical outcomes in young VHL patients. Conclusions: Early imaging-based screening with MRI and CT effectively identifies subclinical lesions in young patients with VHL, allowing for timely interventions and improved clinical outcomes. These findings highlight the importance of incorporating routine imaging protocols into the management of VHL. While the small cohort size limits generalizability, the study emphasizes the potential of early interventions to significantly enhance disease outcomes. Future prospective studies with larger sample sizes are needed to validate these findings and further refine management guidelines.