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What You Should Know About Von Hippel-Lindau (VHL) Syndrome
VHL is often caused by a pathogenic or likely pathogenic variant in the VHL gene. However, some people with VHL receive a strictly clinical diagnosis when genetic testing yields negative or inconclusive results. People with VHL have an increased risk of developing tumors in various parts of their body, including the kidneys, brain, eyes, ears, pancreas, and adrenal glands. Many of these tumors are noncancerous but can cause other health problems. Individuals with VHL have an increased risk of kidney cancer.
UT Southwestern is recognized as a VHL Alliance Clinical Care Center (CCC), a designation that emphasizes our commitment to providing outstanding coordinated care for individuals with hereditary kidney cancer syndromes.
Cancer and Tumor Risks Associated with VHL
People with VHL have an increased risk for tumors or cysts of the kidneys, including kidney cancer. Up to 70% of people with VHL develop kidney cancer.
In addition, VHL increases the risk for noncancerous vessel-rich tumors called hemangioblastomas of the brain (up to 80% risk), spine (up to 55% risk), and eyes (up to 60% risk). People with VHL can have up to a 15% chance to develop noncancerous tumors of the inner ear (endolymphatic sac tumors) and are also at an increased risk for noncancerous tumors in the adrenal gland (called pheochromocytomas), which may cause high blood pressure. Pancreatic cysts and tumors are also seen in people with VHL.
Males with VHL are at risk for noncancerous tumors of the epididymal ducts in the reproductive system called cystadenomas, which, depending on their position, can block the delivery of sperm and cause infertility. They can be removed, but there is a risk of sterility. Women with VHL may develop cystadenomas of the broad ligament near the fallopian tube.
Managing Cancer Risks
UT Southwestern’s Genetic Cancer Prevention Clinic (GCPC) helps ensure people receive appropriate cancer surveillance and management. For more information about the GCPC or to request an appointment, please call us at 214-645-2563.
Kidney Cancer
- Our kidney specialists work with patients to determine appropriate surveillance and risk management.
- These specialists follow recommendations from the National Comprehensive Cancer Network (NCCN), including:
- Abdominal magnetic resonance imaging (MRI) or computed tomography (CT) scan with and without contrast starting at age 15, repeated every two years based on findings
Other Features
- Other UTSW specialists, such as neurologists, ophthalmologists, audiologists, and endocrinologists, may also be an important part of the care team.
- Additional surveillance or management recommendations may include:
- Biochemical workup through a blood test
- Blood pressure evaluation
- Dilated eye exam
- MRI of the brain and spine
- Audiogram and MRI of internal auditory canal
Risks to Family Members
The majority (80%) of patients with VHL have an affected parent, but 20% have a de novo case, meaning it is spontaneous and not inherited. De novo variants causing VHL can be passed on to children. VHL is passed down from the mother or father in an autosomal dominant fashion, which means that children, brothers, sisters, and parents of individuals with VHL have a 1 in 2 (or 50%) chance of also having VHL. Both males and females can get VHL and pass it on to their children.