What is Von Hippel-Lindau Syndrome?
Von Hippel-Lindau syndrome (VHL) is a rare inherited condition that causes tumors and cysts to form in different areas of the body. These growths can develop in the brain, spinal cord, eyes, kidneys, adrenal glands, pancreas, and inner ear.
Some tumors linked to VHL are noncancerous, while others can become cancerous. Because the condition affects people differently, regular monitoring is important to help find problems early and reduce complications.
VHL is caused by a change in the VHL gene, which normally helps control cell growth. The condition is usually passed from parent to child. A child of a parent with VHL has a 50% chance of inheriting the condition. In some cases, the mutation happens for the first time in a person without a family history of VHL.
Symptoms
Symptoms of VHL can vary depending on where tumors or cysts develop in the body. Some people notice symptoms early in life, while others may not have signs until adulthood.
Common symptoms may include:
- Vision changes or vision loss
- Headaches
- Balance or coordination problems
- Hearing loss or ringing in the ears
- High blood pressure
- Rapid heartbeat
- Dizziness
- Back pain or weakness
- Kidney problems
How is it diagnosed?
Healthcare providers use several tests to diagnose and monitor VHL. Genetic testing can identify changes in the VHL gene and help determine whether family members may also be at risk.
Other tests may include:
- MRI or CT scans to look for tumors or cysts
- Eye exams to check the retina
- Blood or urine tests to evaluate adrenal gland function
- Regular screening exams to monitor for new growths over time
Because VHL is a lifelong condition, ongoing follow-up care is an important part of treatment.
How is it treated?
Treatment for VHL depends on the location, size, and type of tumor. Some small tumors may only need careful monitoring with regular imaging and exams.
Treatment options may include:
- Routine surveillance and screening
- Surgery to remove tumors
- Radiation therapy for certain tumors
- Medications to control symptoms caused by hormone-producing tumors
- Targeted therapies for kidney cancer in some cases
Early treatment can help protect vision, hearing, kidney function, and neurological health. Many people with VHL are able to manage the condition successfully with long-term medical care and monitoring.
