What is von Hippel-Lindau (VHL) syndrome?
Von Hippel-Lindau (VHL) syndrome is a rare inherited condition. It creates tumors (some cancers and some growths that are not cancers) and fluid- or air-filled pockets called cysts in different parts of the body.
Many people live with VHL for much of their lives. But not all of the tumors, growths, or cysts cause symptoms or serious problems—especially when doctors find them early and watch them carefully over time. VHL-related tumors, growths, or cysts are often found in these body parts:
People with VHL syndrome often develop hemangioblastomas, a type of growth that’s not a cancer. Hemangioblastomas are made up of many blood vessels. These growths usually show up in the brain, spinal cord, or eyes and often grow unpredictably. VHL-related growths or cysts can get large and press on the brain or spinal cord and interfere with normal functions like vision, hearing, or fluid flow in the nervous system.
How much VHL syndrome affects a person depends on the number, location, and size of their tumors, growths or cysts. Some of these may never cause symptoms, while others can get large and lead to life-threatening complications if not treated. For example, people with VHL syndrome may develop a type of kidney cancer called renal cell carcinoma (RCC). But when RCC or other tumors are found early, treatment is often successful.
Variants (also called mutations) in the VHL gene cause VHL syndrome. This gene directs production of a protein that is supposed to stop tumors from forming. When this protein doesn’t work as it should, tumors can form more easily in the body.
Symptoms of VHL syndrome
Symptoms of tumors, growths, or cysts caused by VHL syndrome can be different from person to person. Symptoms also depend on their size and location and may include:
Who is more likely to get von Hippel-Lindau (VHL) syndrome?
Several gene variants (mutations) affect the VHL gene. VHL syndrome is inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of a VHL gene variant from either parent to get VHL syndrome. Less commonly, people are the first in their family to have VHL syndrome. This is because their originally normal VHL gene changed on its own sometime during the person’s lifetime to become an abnormal VHL gene variant.
If you think you or someone in your family may have VHL syndrome, talk with your doctor about whether genetic testing might make sense.
How is von Hippel-Lindau (VHL) syndrome diagnosed and treated?
Diagnosing VHL syndrome
Doctors diagnose VHL syndrome by reviewing a person’s symptoms, family history, and test results. Having several tumors, growths, or cysts in certain parts of the body often affected by VHL syndrome can raise concern for it.
Because genetic testing confirms a diagnosis of VHL syndrome, genetic counseling can help people understand what the results may mean for them and their family.
Doctors also use various imaging scans—ultrasounds, MRI (magnetic resonance imaging), and CT (computerized tomography)—to identify tumors, growths, and cysts associated with VHL syndrome.
Learn more about neurological diagnostic tests and procedures.
Treating VHL syndrome
Ongoing medical care helps people with VHL syndrome stay healthy. Regular checkups allow doctors to watch for tumors, growths, or cysts and treat them early with certain medicines if needed. Because VHL syndrome varies so much between people, treatment is different for everyone and may include surgery, radiation, or medicines.
Belzutifan (Welireg) is a new medicine available for people with VHL syndrome. This medicine can slow tumor growth and also prevent new tumors from growing. But some tumors may still grow, and a person with VHL syndrome taking this medicine may eventually need surgery.
What are the latest updates on von Hippel-Lindau (VHL) syndrome?
The National Institutes of Health (NIH), which includes NINDS, is the leading federal funder of research on the brain and nervous system, including disorders such as VHL. NIH supports new and innovative research to better understand, diagnose, and treat VHL syndrome.
NIH-funded researchers followed 250 people with VHL syndrome over time and discovered patterns in how hemangioblastomas grow. This information is helping doctors decide when treatment is needed and when it may be safe to wait. For example, NIH research has learned that some hemangioblastomas that grow behind the eyes don’t change much for long periods of time and may not need to be removed.
NIH research is also searching for new treatments for VHL syndrome. For example, an existing cancer medicine vorinostat (Zolinza) used to treat a type of cancer called lymphoma is being tested to see whether it might slow tumor growth in some people with VHL syndrome.
NIH researchers have also developed safer ways to remove tumors in hard-to-reach areas like the brainstem. These surgeries can help relieve symptoms caused by VHL tumors or growths.
For more information on research about VHL syndrome, check NIH RePORTER, a searchable database of current and past research projects funded by NIH and other federal agencies. RePORTER also has links to publications and resources from these projects.
For research articles and summaries on VHL syndrome, search PubMed, which contains citations from medical journals and other sites.
How can I or my loved one help improve care for people with von Hippel-Lindau (VHL) syndrome?
Consider participating in a clinical trial so clinicians and scientists can learn more about VHL syndrome and related disorders. Clinical research with human study participants helps researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.
All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities. This helps make sure that study results apply to as many people as possible and that treatments will be safe and effective for everyone who will use them.
For information about participating in clinical research visit the NINDS Clinical Trials site and NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with VHL syndrome at ClinicalTrials.gov, a searchable database of current and past clinical studies and research results.
Where can I find more information about von Hippel-Lindau (VHL) syndrome?
Information may be available from the following sources: