Other names: VHL; Von Hippel-Lindau Disease

Von Hippel-Lindau Syndrome (VHL) is a rare genetic disease associated with tumors in in multiple organs. VHL associated tumors include hemangioblastomas (blood vessel tumors of the brain, spinal cord, and retina) and retinal angiomas (tumors of the retina). People with VHL are also at increased risk of developing renal cell carcinoma, pancreatic neuroendocrine tumors, and pheochromocytoma.

VHL is diagnosed with a genetic test to determine if there is a genetic mutation in the VHL tumor suppressor gene.

When VHL is inactivated, proteins known as hypoxia-inducible factors (including HIF-2α) can accumulate, leading to the growth of both benign and malignant tumors.

Welireg (belzutifan) is the first FDA approved treatment for von Hippel-Lindau Syndrome. Welireg is a hypoxia-inducible factor-2 alpha (HIF-2α) inhibitor that works by reducing transcription and expression of HIF-2α target genes associated with cellular proliferation, angiogenesis and tumor growth.

Drugs used to treat Von Hippel-Lindau Syndrome