Von Hippel-Lindau Disease (VHL)

What is Von Hippel-Lindau disease?

Von Hippel-Lindau disease (also called VHL or Von Hippel-Lindau syndrome) is a genetic disease. Most people with VHL inherit the gene mutation (change) that causes the condition from their parents. Symptoms usually begin in young adulthood.

VHL causes tumors. Most of these tumors are benign (not cancer), but some may be malignant (cancer). The tumors can grow in various parts of the body, including:

• Adrenal glands.
• Brain and spinal cord.
• Eyes.
• Inner ear.
• Kidneys.
• Pancreas.
• Reproductive tract.

How common is Von Hippel-Lindau disease?

Von Hippel-Lindau disease is a rare disease. It affects about 1 in 36,000 people.

Who is at risk of getting Von Hippel-Lindau disease?

If one parent has the mutated gene, their child has a 50% chance of being born with the mutation. Nearly everyone (97%) who has the mutated gene will have symptoms of VHL by the time they are 65 years old. It affects people of all genders and ethnicities.

What causes Von Hippel-Lindau disease?

Von Hippel-Lindau disease is an inherited condition. You get it through mutations (changes) in the VHL gene you inherit from your parents.

In about 1 in 5 cases, the person diagnosed with VHL is the first in the family to have the disease. In these cases, they did not inherit the mutation in the VHL gene. The gene may have mutated during embryo development or after birth.

The VHL gene’s job is suppressing tumors. Mutations in the gene allow tumor cells to grow out of control. Uncontrolled, these cells form tumors throughout the body.

What are the symptoms of Von Hippel-Lindau disease?

VHL-related tumors can grow in many different parts of the body. That means there isn’t one primary symptom.

Depending on the size and location of tumors, you may experience symptoms such as:

• Headaches.
• Hearing loss or ringing in the ears (tinnitus).
• High blood pressure.
• Loss of balance.
• Loss of muscle strength or coordination.
• Vomiting.
• Vision problems.

What are the complications of Von Hippel-Lindau disease?

Most VHL-related tumors are noncancerous. The most common tumors that develop with VHL are hemangioblastomas. These benign tumors grow in the brain, spinal cord and retina.

Although they aren’t cancerous, hemangioblastomas can cause problems. They can press on nerves and brain tissue as they grow, causing a range of serious symptoms. Depending on a tumor’s location, it can eventually cause hearing or vision loss, dangerously high blood pressure or trouble walking.

Other tumors that grow in the kidneys or pancreas are more likely to be cancer. People with Von Hippel-Lindau disease have a higher than average risk of kidney and pancreatic cancer.

How is Von Hippel-Lindau disease diagnosed?

The only way to confirm VHL is by genetic testing to see if you have the gene mutation. If anyone in your family has Von Hippel-Lindau disease, ask your healthcare provider if genetic testing is right for you.

Healthcare providers often diagnose VHL after someone has symptoms related to a VHL tumor. Your provider may use imaging tests — such as an MRI or ­CT scan — to find and diagnose tumors.

How is Von Hippel-Lindau disease managed or treated?

Because tumors cause serious, sometimes permanent, problems, it’s important to manage the disease. If you know you have VHL, be sure to see your healthcare provider as often as recommended to monitor your condition.

Von Hippel-Lindau disease has no cure. The goal of treatment is to find and remove tumors as early as possible, before they affect your health. Your provider may recommend surgery to remove tumors whenever possible. Some tumors may respond to radiation therapy.

Can I prevent Von Hippel-Lindau disease?

Von Hippel-Lindau disease occurs because of genes you inherit. There is no way to prevent it.

Genetic testing can determine if you carry the VHL gene. If you plan to have a baby, a genetic counselor can help you understand the risks of passing the gene to your child.

What is the prognosis (outlook) for people with Von Hippel-Lindau disease?

Early detection and treatment of tumors is essential for people with Von Hippel-Lindau disease. Left untreated, even noncancerous tumors can lead to blindness or brain damage.

Tumors in the kidneys or pancreas are much more likely to be cancerous. Finding and removing these tumors at their earliest stages can be lifesaving.

Careful monitoring and early treatment greatly improve the prognosis for people with VHL. Treating tumors early can reduce or even prevent negative effects.

When should I call my healthcare provider?

You should call your healthcare provider if you experience:

• Changes to your vision or hearing.
• Headaches.
• Nausea or vomiting not caused by other illness.
• Sharp increase in blood pressure.
• Sudden difficulty with walking, balance or coordination.

What questions should I ask my healthcare provider?

You may want to ask your healthcare provider:

• How do I know if I carry the gene mutation for Von Hippel-Lindau disease?
• Should my family members also have genetic testing?
• How often do I need to see my provider for screenings and imaging tests?
• Are there other treatment options besides surgery or radiation?

A note from Cleveland Clinic

Von Hippel-Lindau disease is a rare genetic disorder that leads to tumors in various parts of the body. The course of the disease is different for everyone. Some people will experience few symptoms. Others will have serious related health issues.

Even though most VHL tumors are noncancerous, they can cause severe health problems. Careful monitoring and early treatment of tumors can help people with the disease lead long, healthy lives.