Von Hippel-Lindau Disease and Tumors

Von Hippel-Lindau disease (VHL) is a genetic condition that causes abnormal blood vessel growth throughout different areas of your body. These abnormal growths can further develop into tumors and cysts. VHL is caused by a mutation in the gene that controls cell growth, located on your third chromosome.

Both males and females of all ethnic backgrounds are affected by VHL, with approximately 1 in 36,000 have the condition. Most people start experiencing symptoms around the age of 23, and, on average, receive a diagnosis by the time they are 32.

Cancer patient in a bed receiving chemotherapy
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Most of the tumors caused by VHL are harmless but can become cancerous. Tumors are most commonly found in the:

  • Eyes. Called retinal hemangioblastomas (masses of tangled blood vessels), these tumors are not cancerous but may cause problems in the eye such as vision loss and increased eye pressure (glaucoma).
  • Brain. Known as hemangioblastomas (masses of tangled blood vessels), these masses are not cancerous but may cause neurological symptoms (such as difficulty walking) due to the pressure they put on parts of the brain.
  • Kidney. These masses are the ones most likely to become cancerous. This type of cancer, called renal cell carcinoma, is the leading cause of death for people with VHL.
  • Adrenal glands. Called pheochromocytomas, they are not usually cancerous but may cause more adrenaline to be produced.
  • Pancreas. These tumors are usually not cancerous, but can, occasionally, develop into cancer.

Masses can also develop in the spine, inner ear, genital tract, lung, and liver. Some people may only get tumors in one area while others may be affected in multiple regions. Only 10% of people with VHL develop ear tumors. Ear tumors should be treated to prevent deafness.

Getting a Diagnosis

Genetic testing, through a blood test, is the most effective way of diagnosing VHL. If your parent has VHL, then there is a 50% chance that you have inherited the condition. However, not all cases of VHL are inherited. Approximately, 20% of VHL have a genetic mutation that was not passed down from their parents. If you have VHL, there is an extremely high chance that you will develop at least one tumor during your life — 97% of the time tumors develop before the age of 60.


Treatment options depend on where your tumor is located. Many tumors can be removed with surgery. Others do not need to be removed unless they are causing symptoms (for example, a brain tumor pressing on your brain). One medication, belzutifan (WELIREG), has been approved by the FDA to treat certain forms on VHL.

If you have VHL, you'll need to have frequent physical examinations, as well as magnetic resonance imaging (MRI) or computed tomography (CT) scans of the brain, abdomen, and kidneys to watch for new tumors. Eye examinations should also be done regularly.

A close watch should be kept over any kidney cysts. These may be removed surgically to reduce the risk of developing kidney cancer. Approximately, 70% of people with VHL develop kidney cancer by the age of 60. However, if kidney cancer does not develop by then, there's a good chance it won't occur.

1 Source
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  1. U.S. Food and Drug Administration. FDA approved belzutifan for cancers associated with von Hippel-Lindau disease. Press release. Published August 13, 2021.

Additional Reading
  • Evans, J. P. (2002). von Hippel-Lindau disease. eMedicine.

  • VHL Alliance (2016). VHL Facts,.

By Mary Kugler, RN
Mary Kugler, RN, is a pediatric nurse whose specialty is caring for children with long-term or severe medical problems.