J Korean Neurosurg Soc.  2025 May;68(3):338-349. 10.3340/jkns.2025.0018.

Von Hippel-Lindau Disease : A Comprehensive Review of Diagnosis, Genetics, Clinical Challenges, and Surveillance

• Jung NY
• Park JB

• KMID: 2567465
• DOI: http://doi.org/10.3340/jkns.2025.0018

Abstract

von Hippel-Lindau (VHL) disease is a genetic condition predisposing individuals to the development of benign and malignant tumors across various organs. This review explores the intricate genetic underpinnings of VHL disease, its clinical manifestations, and the associated malignancy risks. The latest diagnostic criteria, surveillance guidelines, and advancements in therapeutic strategies, including the Food and Drug Administration-approved hypoxia-inducible factor-2α inhibitor, belzutifan, are focused on. Through a multidisciplinary approach, tailored surveillance programs aim to improve patient outcomes while balancing intervention risks. Emerging technologies such as wholebody magnetic resonance imaging and liquid biopsies hold promises for enhancing non-invasive surveillance. This review underscores the significance of ongoing research and interdisciplinary care in managing this complex syndrome.

Keyword

von Hippel-Lindau disease; Genetics; Hemangioblastoma; Renal cell carcinoma; Pheochromocytoma