FAQ

Von Hippel-Lindau Disease (VHL) is an inherited tumor predisposition syndrome caused by a flaw in one gene– the VHL gene. VHL involves the growth of both benign and malignant tumors in up to 10 parts of the body.  While the first ever pharmacological treatment for VHL was recently approved, active surveillance and surgery at the appropriate time remain the cornerstones of living with VHL for the majority of patients, for the time being.

VHL affects 1 in 36,000 people (~10,000 people in the U.S. and 200,000, worldwide) in every ethnic group. The prevalence of VHL is approximately the same prevalence as muscular dystrophy and one-half that of cystic fibrosis.

Unfortunately, there is not currently a cure for VHL. However, in recent years there have been major advancements in the management of VHL. In September, 2021, Welireg was approved by the FDA for the treatment of renal cell carcinoma (RCC), pancreatic neuroendocrine tumors (pNET), and hemangioblastomas (HB) in adult VHL patients and is now available to be prescribed in the US. Prior to this, management of VHL consisted solely of lifelong surveillance and surgeries at the appropriate times. Please note that major advancements in scanning and surgical procedures, as well as updated best practices on the appropriate time for intervention, have also resulted in significant improvements in the quality of life of people living with VHL. All of this is due to an increased focus on, and funding for, VHL research.

If you or a loved one have been diagnosed with VHL, there are three important things you should do to mitigate some of the worst potential consequences of VHL:

1. Always make sure to work with medical professionals who are highly experienced in treating VHL patients. There are a network of VHL Clinical Care Centers around the world where patients can access coordinated care from a team of VHL experienced specialists. View Clinical Care Centers.
2. Always make sure that you are up-to-date on your surveillance. You can view the current VHL Surveillance Guidelines.

Be in touch with the VHL Alliance for all of your non-clinical needs. VHLA has helpful support and information resources available for everybody in the VHL community.

There are a network of VHL Clinical Care Centers around the world where patients can access coordinated care from a team of VHL experienced specialists. You can find more information by viewing Clinical Care Centers.

The VHL Alliance (VHLA) is a 501c3 non-profit organization founded in 1993 by three families with VHL to share experiences, learn from and support from one another, and help doctors understand and treat VHL to improve life for patients. Today, VHLA empowers patients and their healthcare teams to best manage their care and serves as the preeminent resource and clearinghouse of patients, caregivers, researchers, and the medical community.