Von Hippel-Lindau Syndrome: An Updated Narrative Review for the First-Contact Clinician

Area of Science:

• Oncology
• Genetics
• Nephrology

Background:

• Von Hippel-Lindau (VHL) syndrome is an autosomal dominant disorder predisposing individuals to various tumors, including CNS hemangioblastomas and clear cell renal cell carcinoma (ccRCC).
• These VHL-associated tumors are significant causes of morbidity and mortality.
• Effective management necessitates a comprehensive, multidisciplinary approach.

Purpose of the Study:

• To review the current diagnostic strategies for VHL syndrome.
• To outline established follow-up protocols for patients with VHL syndrome.
• To highlight recent therapeutic advancements for VHL-related conditions.

Main Methods:

• This study is a narrative review of existing literature on VHL syndrome.
• It synthesizes information on diagnosis, surveillance, and treatment modalities.
• Focus is placed on recent therapeutic innovations.

Main Results:

• Active surveillance is crucial for early detection and management of VHL-associated tumors.
• Hypoxia-inducible factor 2 alpha (HIF-2α) inhibitors and VEGF-targeted therapies show promise.
• Multidisciplinary care is essential for optimal patient outcomes.

Conclusions:

• VHL syndrome requires lifelong monitoring and tailored management plans.
• Emerging therapies offer new hope for patients, complementing traditional surveillance and surgical interventions.
• Integrated care models are vital for addressing the multisystemic nature of VHL syndrome.