Von Hippel Lindau (VHL) Clinic at UFHealth

What is Von Hippel Lindau?

VHL Von Hippel-Lindau syndrome (VHL) is a hereditary condition associated with tumors arising in multiple organs. VHL-related tumors include hemangioblastomas, which are blood vessel tumors of the brain, spinal cord, and retina. The retinal tumors are also called retinal angiomas, which can lead to blindness if not treated in a timely manner. People with VHL also have an increased risk of developing clear cell renal cell carcinoma (ccRCC), which is a specific type of kidney cancer, as well as a type of tumor in the pancreas known as pancreatic neuroendocrine tumor (pNET). Tumors of the adrenal gland or pheochromocytoma can also develop, with a small number becoming metastatic, meaning they spread to other parts of the body.

 

How common is VHL?

It is estimated that about 1 in 30,000 people has VHL. About 10% of people with VHL do not have any family history of the condition. They have a de novo mutation, meaning a new mutation in the VHL gene not present in their parents.

 

What treatments are available for VHL?

On August 13, 2021, the US Food and Drug Administration (FDA) approved Belzutifan [pronounced bell-ZOO-ti-fan] (Welireg) for the treatment of renal cell carcinoma (RCC), pancreatic neuroendocrine tumors (pNET) and hemangioblastomas (HB) in adult VHL patients. The medication is now available to be prescribed in the US. Belzutifan for Renal Cell Carcinoma in von Hippel–Lindau Disease | NEJM

 

vhl mutation

 

How can VHL clinic at UF Neurology help patients with VHL?

  • Whole-body surveillance for VHL using MRI and multi-modality imaging.

  • Pheochromocytoma testing

  • Surveillance for renal cell carcinoma and visual surveillance

  • Three generations of Genetic testing

  • Enrollment in clinical trials

  • Consideration for Belzutifan for treatment of RCC, Hemangioblastoma in VHL patients.

 

Who to contact?

Contact Hans Shuhaiber MD, at hshuhaiber@ufl.edu at VHL clinic for an appointment at UF Neurology, NeuroMedicine Clinic, 1505 SW Archer Road, Gainesville, Florida.