Von Hippel-Lindau Disease

Overview

Von Hippel-Lindau disease (VHL) is an inherited disorder that causes tumors and fluid-filled cysts to grow in multiple parts of the body. These growths can be benign or, in some organs, cancerous. They commonly affect the brain and spinal cord, the back of the eye (retina), the kidneys, the adrenal glands, and the pancreas.

VHL is caused by a change in a gene that normally helps control cell growth. Because the condition affects many organs over a person's lifetime, regular screening is central to care, allowing growths to be found and treated early. With careful monitoring and treatment, many complications can be managed or prevented.

Because VHL affects so many organs and unfolds gradually over a lifetime, it is best thought of as a condition to be managed rather than a single event. People with VHL typically follow a planned schedule of imaging and eye examinations starting in childhood or early adulthood, so that growths can be found and treated while they are still small. This proactive approach is the cornerstone of care and greatly improves outcomes.

Symptoms

Symptoms vary depending on which organs are involved and which growths are present. They can include:

• Headaches, balance problems, or weakness from growths in the brain or spinal cord (hemangioblastomas)
• Vision changes from growths in the retina
• High blood pressure, sweating, or episodes of rapid heartbeat from adrenal tumors
• Blood in the urine or a kidney mass
• Hearing loss or balance problems from inner-ear tumors
• Abdominal symptoms from pancreatic cysts or tumors

Sudden severe headache, sudden weakness, or sudden vision loss should be evaluated urgently.

Causes

VHL is caused by a change (variant) in the VHL gene, which normally acts as a tumor suppressor, helping to keep cell growth in check. When this gene is altered, cells in certain organs can grow into tumors and cysts.

The condition is usually inherited in a pattern in which a single altered copy of the gene, passed from one parent, is enough to cause it. In some people, the gene change arises new rather than being inherited. A child of an affected parent has a chance of inheriting the altered gene, which is why genetic counseling is important for families.

Risk Factors

• A parent or close relative with VHL
• Inheriting an altered copy of the VHL gene
• A known VHL gene change identified by genetic testing

Diagnosis

Diagnosis is based on the pattern of tumors, family history, and genetic testing:

• Genetic testing: Confirms a change in the VHL gene and can identify at-risk family members.
• Imaging: MRI of the brain and spine, eye examinations, and scans of the abdomen to find growths.
• Eye exams: Specialized examination of the retina.
• Hormone and urine tests: To detect adrenal and kidney involvement.

Because VHL affects many organs, diagnosis often leads to a coordinated, lifelong screening plan.

Treatment

There is no cure for VHL, so care focuses on monitoring and treating individual growths:

• Regular screening: Scheduled imaging and eye exams to catch tumors early when they are easier to treat.
• Surgery: To remove tumors that are growing or causing symptoms, often aiming to preserve organ function.
• Focused treatments: Such as laser or other therapy for retinal growths.
• Targeted medication: Certain medicines can help treat some VHL-related tumors.

Care is usually coordinated by a team of specialists familiar with the many features of VHL.

Prevention

VHL itself cannot be prevented, but complications can be reduced by:

• Following a lifelong screening schedule to find growths early
• Attending all specialist appointments and imaging tests
• Reporting new symptoms, such as headaches or vision changes, promptly
• Seeking genetic counseling and testing for family members

When to See a Doctor

If you have VHL or a family history of it, keep up with your screening schedule and report new symptoms to your care team. Seek emergency care right away for:

• A sudden, severe headache unlike any before
• Sudden weakness, numbness, or trouble walking
• Sudden vision loss
• A severe episode of very high blood pressure with pounding headache, sweating, and a racing heart

Related Topics

Frequently Asked Questions

References

1. National Cancer Institute (NCI). Von Hippel-Lindau Disease.
2. MedlinePlus, U.S. National Library of Medicine. Von Hippel-Lindau syndrome.
3. Genetic and Rare Diseases Information Center (GARD). Von Hippel-Lindau disease.
4. National Institute of Neurological Disorders and Stroke (NINDS). Von Hippel-Lindau Disease.