What Is von Hippel–Lindau Disease?

von Hippel–Lindau (VHL) disease is a rare inherited genetic condition that increases the risk of developing tumors and cysts in different parts of the body, including the kidneys, brain, spinal cord, eyes, adrenal glands, and pancreas. Many of these tumors are noncancerous, but some, especially those that develop in the kidneys, can become cancerous. The most common kidney cancer associated with VHL is clear cell renal cell carcinoma.

VHL disease is caused by a change (mutation) in the VHL gene, which normally acts as a tumor suppressor. This gene helps control cell growth and regulates the development of blood vessels. When the gene is not working correctly, cells can grow and divide in an uncontrolled way, forming tumors. Because this gene is present in every cell of the body, people with VHL may develop multiple tumors over their lifetime.

VHL is inherited in an autosomal dominant pattern, which means a parent with VHL has a 50 percent chance of passing the condition to each child. However, not all cases are inherited; some occur due to new mutations that happen by chance.

The condition usually becomes noticeable in young adulthood, although tumors may appear at any age. The symptoms depend on where the tumors develop. For example:

In the brain or spinal cord, tumors can cause headaches, balance problems, or weakness.

• In the eyes, growths can affect vision.
• In the adrenal glands, tumors may lead to high blood pressure and rapid heartbeat due to excess hormone production.
• In the kidneys, multiple cysts or tumors may form, and some can become cancerous if not monitored or treated.

Diagnosis is based on family history, imaging tests, and genetic testing. A simple blood test can confirm whether a person carries the VHL mutation. Family members of someone with VHL are often encouraged to undergo genetic counseling and testing, even if they feel healthy, because early monitoring can prevent serious complications.

Management of VHL focuses on regular lifelong monitoring, usually through MRI or ultrasound, to detect tumors early. Treatment depends on the location and size of each tumor. For kidney tumors, doctors often use active surveillance until tumors reach a size where treatment is necessary. Surgery, partial nephrectomy, or targeted therapy may be used to treat kidney cancers while preserving as much kidney function as possible.

With careful monitoring and timely treatment, many people with VHL disease live long, productive lives. Awareness and early detection are key.

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