Background: Patients with von Hippel-Lindau (VHL) disease are predisposed to lifelong risk of tumors in multiple organs. This study evaluated disease monitoring and treatment patterns among patients with VHL-associated renal cell carcinoma (VHL-RCC).
Patients and methods: Using an algorithm based on VHL manifestations, patients with VHL-RCC were selected from Optum's de-identified Clinformatics Data Mart Database (2007-2020) and matched to controls without VHL or RCC. Treatment patterns for VHL-associated tumors were described. Incidence rate ratios (IRRs) for pain management drug use, disease monitoring procedures, and medical specialist visits in the patient versus control cohorts were estimated using generalized linear models.
Results: Among 160 patients with VHL-RCC and 800 matched controls (mean age 51.5 years; 44.4% female), the most commonly observed tumor treatments during the study period were nephrectomy and targeted therapies for RCC (incidence rates: 2.13 and 2.07 per 10-person years, respectively); a small but notable portion of patients also received tumor treatments for other VHL-associated tumors (incidence rates: 0.07-0.37 per 10-person years). Kaplan-Meier-estimated median time to first RCC tumor treatment from initial observed RCC diagnosis was 48 days. The patient cohort had greater paint management drug use (adjusted IRR: 1.37 [95% CI: 0.97, 1.94]), received more disease monitoring procedures (3.97 [95% CI: 3.42, 4.61]), and visited more medical specialists (1.82 [95% CI: 0.94, 3.50]-26.51 [95% CI: 5.29, 132.77]) than the control cohort.
Conclusion: The burden of VHL-RCC extends beyond surgical excision to various treatments for managing VHL-associated tumors. Effective tumor control may mitigate the burden of morbidity of VHL-RCC.
Keywords: Disease management; Healthcare use; Nephrectomy; Renal neoplasms; VHL disease.
Copyright © 2025 Elsevier Inc. All rights reserved.