VHL usually means von Hippel-Lindau disease, an inherited tumor-predisposition syndrome caused by a pathogenic variant in the VHL tumor-suppressor gene. It is autosomal dominant, so each child of an affected parent has a 50% chance of inheriting it.

It can cause benign or malignant tumors/cysts, especially:

Diagnosis is based on characteristic clinical findings and/or germline VHL genetic testing. Regular lifelong screening is important, typically including eye examinations, MRI of the brain/spine and abdomen, blood-pressure checks, and metanephrine testing. The schedule should be individualized through a genetics and VHL-experienced multidisciplinary clinic. GeneReviews surveillance summary outlines commonly used age-based surveillance.

For selected adults with VHL-associated renal cell carcinoma, CNS hemangioblastomas, or pancreatic neuroendocrine tumors that do not need immediate surgery, belzutifan may be an option under specialist care. NCI’s VHL overview discusses diagnosis and management.