Von Hippel-Lindau (VHL) Syndrome: Symptoms, Causes, Treatment

Written by Hallie Levine
Medically Reviewed by Laura J. Martin, MD on May 31, 2025
17 min read

Von Hippel-Lindau (VHL) syndrome is a very rare genetic disorder. Changes in the VHL gene can cause tumors and cysts to grow in different parts of your body. You can have tumors in your:

  • Eyes

  • Brain

  • Spinal cord

  • Inner ear

  • Adrenal glands

  • Pancreas

  • Kidneys

  • Reproductive organs 

Most tumors are benign, meaning they aren't cancerous. But you can have a higher risk for kidney and pancreatic cancer. 

Von Hippel-Lindau syndrome is also called VHL disease, VHL syndrome, and von Hippel-Lindau disease. The syndrome was named after two doctors, Eugen von Hippel in Germany and Arvid Lindau in Sweden. 

Normally, the VHL gene prevents tumors from forming. If you have the mutated (or changed) VHL gene, abnormal cells can grow and cause tumors. 

Almost 8 out of 10 cases  of VHL are inherited from parents. About 2 in 10 VHL gene changes happen spontaneously. This means you get a VHL gene from your parents. But DNA changes occur very early as you're developing.

Is VHL syndrome contagious?

VHL syndrome isn’t contagious. You can’t catch VHL from someone else.

Can VHL syndrome be prevented?

VHL syndrome can’t be prevented. If you have a family history of VHL syndrome, you can get a genetic test before starting your own family. The test can tell if you carry the VHL gene mutation. If you do, your doctor may suggest in vitro fertilization (IVF). 

Pre-implantation genetic testing can check for gene changes in the fertilized eggs. Only fertilized eggs with the unchanged VHL genes are implanted into the mother's uterus. 

There are also methods to use donor eggs or sperm to lower the risk for VHL syndrome. Talk with your doctor about your options.

VHL syndrome is very rare. It affects about 1 in every 36,000 people. Only about 10,000 people in the United States and 200,000 people in the world have VHL. 

What does the VHL gene do?

The VHL gene is a tumor suppressor. The gene makes a protein to control cell growth. The protein helps stop abnormal cells from growing. With VHL, the gene changes allow cells to grow quickly. And sometimes, cancer can form. 

What is a genetic “mosaic”?

Almost 1 in 20 people with VHL have a “mosaic” gene pattern. That means some cells have VHL gene changes but others do not. Sometimes, the changed VHL gene can still be passed down to your children.

How is VHL syndrome inherited?

About 8 in 10 people with the syndrome inherit it from a parent. VHL is autosomal dominant. That means you only need one altered copy of the gene for VHL syndrome. If a parent has VHL syndrome, each of their children has a 50% chance of getting it. 

Symptoms of VHL syndrome can vary. Your symptoms can depend on where your tumors grow. With VHL, you may have:

  • Headaches
  • Hearing loss
  • Tinnitus (ringing in the ears)
  • High blood pressure
  • Balance problems
  • Trouble seeing
  • Vomiting
  • Loss of muscle strength 

At what age is VHL syndrome diagnosed?

Although some symptoms start around 26 years old, most people with VHL have symptoms by age 65.

Depending on your tumor type, some symptoms also begin: 

  • 12 to 25 years old: eye (retinal hemangioblastomas) and adrenal (pheochromocytoma) tumors
  • 14 to 40 years old: noncancerous tumors in your testicles (epidydimal cystadenoma)
  • 16 to 46 years old: noncancerous tumors on your broad ligament (mesonephric adnexal papillary cystadenoma)
  • 18 to 25 years old: noncancerous blood vessel tumors in your lower brain (cerebellar hemangioblastomas)
  • 24 to 35 years old: endolymphatic sac (inner ear) or pancreas tumors or cysts and noncancerous blood vessel tumors at the base of your brain or in your spinal cord (brainstem and spinal cord hemangioblastomas)
  • 25 to 50 years old: kidney tumors (renal cell) or cysts

Cancer and VHL syndrome

If you have VHL syndrome, you may not develop cancer. But you're at higher risk for certain cancer types. About 4 in 10 people with VHL syndrome get a form of kidney cancer (renal cell carcinoma). It’s the most common cause of VHL disease-related deaths. 

About 15 out of 100 people with VHL syndrome get pancreatic neuroendocrine tumors. The smaller tumors usually don't have symptoms. But tumors in your pancreas can spread to other parts of your body.

Are noncancerous tumors linked to VHL syndrome?

Certain noncancerous tumors can happen with VHL syndrome. You can have:

  • Hearing loss, balance problems, or tinnitus (ringing in the ears) from endolymphatic sac tumors. About 1 in 10 people with VHL syndrome get noncancerous inner ear growths.
  • Headaches, balance problems, or arm and leg weakness can happen from hemangioblastomas. About 6-8 out of every 10 people with VHL syndrome get these benign brain or spinal cord tumors.
  • Vision problems from hemangioblastomas in your eye or retina can happen. About 6 in 10 people with VHL syndrome develop them.
  • High blood pressure, panic attacks, and sweating from adrenal tumors can also happen.

How long do symptoms last? 

Symptoms of VHL syndrome can come and go. Sometimes you don’t have any signs. And symptoms can vary, too. It depends on where your tumors form. Your treatment can also matter. 

Your doctor can talk to you about staying healthy. Screening for cancer is important to catch your symptoms early. Talk to your doctor about what they recommend. 

There are two main types of von Hippel-Lindau syndrome. They are based on your cancer risk.

VHL type 1

With VHL type 1, you're at a lower risk for pheochromocytoma. And some of the adrenal tumors are noncancerous.

Type 1A VHL. You're at higher risk for other types of VHL-related tumors like:

  • Hemangioblastomas, slow-growing tumors in your spinal cord, brain, or eyes

  • Kidney cancer

Type 1B VHL. The nearby BRK1 gene is missing in type 1B. You're at a higher risk for:

  • Hemangioblastomas

  • Other VHL-related tumors

But you're at a lower risk for adrenal and kidney tumors (renal cell carcinoma).

VHL type 2

If you have VHL type 2, you're at a higher risk for all types of VHL-linked cancer. You may also be more likely to have mutations called missense mutations in your VHL gene.

Type 2A VHL. Although your risk for pheochromocytoma is higher, you're at a lower risk for kidney cancer.

Type 2B VHL. You're at a higher risk for both pheochromocytomas and kidney cancer.

Type 2C VHL. You're only at a higher risk for adrenal tumors. You typically don't develop renal cancers or hemangioblastomas.

If your doctor thinks you have VHL syndrome, you'll get a blood test to look for VHL gene changes. Your doctor may suspect you have VHL syndrome if you have:

  • Multiple brain or spinal hemangioblastomas
  • Any hemangioblastoma before you're 50 years old
  • An eye hemangioblastoma, especially at a young age
  • Kidney cancer before you're 40 years old
  • Multiple kidney or pancreatic cysts or tumors
  • Endolymphatic sac or inner ear tumors

Early detection for VHL syndrome

Since VHL syndrome is so rare, routine screening isn’t recommended. If your parent, sibling, or child has the syndrome, a genetic counselor can test you for VHL gene changes.

Genetic testing for VHL syndrome

The only way to know for sure if your VHL gene is altered is to get genetic testing. Your geneticist or genetic counselor can test you.

If you're pregnant and have a family history of VHL syndrome, you can ask for VHL testing as part of your pregnancy-related genetic testing. Your doctor can do a procedure like an amniocentesis or chorionic villus sampling. These tests get a few cells containing DNA to test for VHL gene changes.

What to know when you’re diagnosed

If you've been diagnosed with VHL syndrome, cancer screening is important. Even if you don’t have symptoms, you’ll want to catch cancer early. Knowing about your cancer can help you treat it. 

Talk to your doctor about which symptoms to look for, also called surveillance. Your doctor can suggest the best schedule that’s right for you.

If you have VHL syndrome, your medical team can regularly test you for certain cancers. Here’s who will be on your team:

  • An ophthalmologist: an eye doctor to check for retinal hemangioblastomas.
  • An endocrinologist: a hormone doctor to look for adrenal tumors.
  • A genetic counselor: provides counseling about gene changes and family planning in the future.
  • A nephrologist: a kidney specialist to monitor you for signs of kidney cancer.
  • A neurologist: a nerve and brain doctor to look for brain or spinal hemangioblastomas.
  • An oncologist: a cancer doctor to treat you if you develop cancer.
  • An audiologist: a hearing specialist to check your hearing and look for ear tumors.
  • A primary care provider: helps coordinate all your doctor's visits and screening tests. 

Active surveillance is when your medical team closely monitors you for signs of cancer. It’s done if you have VHL syndrome, even if you don’t show symptoms. You’ll routinely undergo certain medical exams and screenings. The exams and screenings help prevent complications of VHL.

Types of tumor screening for VHL syndrome

If you have VHL, your doctor may suggest screenings based on your age.

Ages 0 to 4. You'll see an eye doctor for eye exams every six to 12 months. They'll look closely at your eye and your retina. Yearly visits to an eye specialist may help after age 1. 

Once you're 2 years old, your doctor will check your blood pressure and pulse each year. This can help detect adrenal tumors like pheocromocytomas or paragangliomas.

Ages 5 to 10. Your eye exams every six to 12 months will include dilation of your eyes. The eye exam looks for retinal hemangioblastomas. And your doctor will check substances called metanephrines each year, looking for adrenal tumors.

After age 11. You'll get an MRI to check for brain and spinal cord tumors (hemangioblastomas) every few years. And every other year, your doctor will check your hearing, too. It's called an audiogram, and it looks for inner ear (endolymphatic sac) tumors.

Ages 15 and older. You'll get a one-time MRI to carefully check your ear for endolymphatic sac tumors. And every two years you'll get an MRI of your belly to look for kidney, pancreatic, and adrenal tumors.

Starting at age 30. You'll get yearly eye exams. 

After age 65. You'll get yearly imaging scans of any areas with tumors. And if you don't have adrenal or ear tumors, your doctor will stop metanephrine tests and ear scans.

What are your cancer risks?

About 2 in 5 people with VHL syndrome get kidney cancer. And 15 in 100 get pancreatic cancer. 

Kidney cancer can start as a single tumor in one kidney or multiple tumors in both. Up to half of people with VHL get pancreatic cysts. While most are benign, some can lead to pancreatic neuroendocrine tumors. These tumors are a type of pancreatic cancer. 

Treatment for VHL syndrome varies. It can depend on the type of cancer you have. If your tumor is benign (noncancerous) and small, you may not need treatment at all. 

Medications for VHL syndrome

With VHL, research shows belzutifan (Welireg) can shrink:

  • Pancreatic neuroendocrine tumors by 30%

  • Renal cell carcinoma by 40%

  • Hemangioblastomas by 60%

If you have VHL, you'll take belzutifan as three pills once a day. The medicine can also stop tumors from spreading. The pills usually take four to six months to fully work.

Surgery for VHL syndrome

Surgery is the most common treatment for VHL. Different procedures can treat:

  • Endolymphatic sac tumors
  • Large hemangioblastomas
  • Kidney cancers
  • Pancreatic neuroendocrine tumors
  • Adrenal tumors

Other ways to treat VHL syndrome

Other treatments your medical team may suggest include: 

Radiation therapy. High-energy, focused beams can destroy cancer cells and tumors. The therapy can get rid of endolymphatic sac tumors and some hemangioblastomas. 

Immunotherapy, targeted therapy, and chemotherapy. These therapies help treat kidney cancers that have spread beyond the kidneys. New therapies include medications to stop blood vessels from growing. 

Ablation. Two kinds of ablation can treat kidney cancer. Radiofrequency ablation uses radiofrequency waves to destroy your tumor. Cryoablation uses extreme cold to freeze and destroy the cancer cells. 

Clinical trials. There are VHL syndrome trials with new treatments at the VHL Alliance and ClinicalTrials.gov.

VHL syndrome can cause potentially life-threatening complications. Active surveillance can help you catch cancer symptoms early. And detecting symptoms can help you get the best treatment.

VHL syndrome can impact many parts of your body:

Brain and spinal cord. VHL can form hemangioblastomas, which are blood vessel-rich tumors. They usually grow in your cerebellum, brainstem, or cervical spine. They can cause symptoms like:

  • Headaches

  • Nausea

  • Arm and leg numbness or weakness

  • Dizziness

  • Loss of control of when you pee or poop 

Pancreas cysts and tumors. About a quarter of people with the syndrome get pancreatic cysts. Often, there aren't symptoms. But the cysts can sometimes cause pain. 

You may also get pancreatic tumors. The tumors can block your ducts. And fluid can build up between your pancreas and GI tract. If this happens, you can get: 

  • Jaundice

  • Pain

  • GI symptoms like diarrhea or constipation

  • Infection

Rarely, pancreatic neuroendocrine tumors (pNETs) can spread to other parts of your body like your liver or bones. 

Kidney cysts and cancer. People with VHL syndrome can get kidney cysts. The cysts can impact your kidney function. You may also have a higher risk for kidney cancer.

Eyes and retinas.About 3 in 5 VHL cases get retinal hemangioblastomas. These eye tumors develop because of the growth from leaky blood vessels. If they aren't diagnosed and treated early, the eye tumors can cause your retina to detach. And a detached retina can cause vision loss or blindness.

Adrenal glands. With VHL, you can get tumors in or near your adrenal glands (pheochromocytomas or paragangliomas). Without treatment, these tumors can cause life-threatening high blood pressure problems. 

Other symptoms you may have include:

  • Headaches

  • Irregular or rapid heartbeat

  • Heavy sweating

  • Hot or cold flashes 

Reproductive system. You can develop benign tumors with at least one cyst in your reproductive tract. These are called cystadenomas. Cysts can grow in your testicles. 

They can also form on your broad ligament, an area of tissue on top of your uterus, fallopian tubes, and ovaries. Cysts can grow in the duct attached to your testicles (epididymis). The epididymis carries your sperm. 

Liver. Some people with VHL develop cysts on their liver called simple hepatic cysts. They often don’t cause any symptoms. But if the cyst bursts (ruptures), you can have pain. Very rarely, patients develop a hemangioblastoma in their liver. 

Ears and hearing. About 15% of people with VHL get endolymphatic sac tumors. These tumors develop in the endolymphatic sac behind your inner ear. The small tumors can get misdiagnosed as Meniere’s disease. 

Benign tumors and cysts. Most people with the syndrome also get benign tumors and cysts. Some of the most common places these grow include your:

  • Liver, such as hepatic cysts (hemangioma) and liver adenomas
  • Kidneys, about half of people with VHL syndrome get multiple kidney cysts

Most of the time these noncancerous growths don’t cause problems. But if there are many or the growths become bigger, your doctor may suggest removing them. Taking the benign growths out can sometimes improve your kidney function.

Here are some helpful tips to keep your body healthy. With VHL syndrome, you can better manage symptoms if you:

Eat a healthy diet. Focus on healthy eating like plant-based foods. There's no specific diet to treat VHL, but you can eat nutritiously. Try eating colorful fruits and vegetables with each meal. 

Avoid refined grains like white rice. Add lean sources of protein like fish, poultry, and nuts. And avoid red meats, processed meats, and cheeses.

Don’t smoke. It can lead to cancer, especially in your kidneys. Once you’ve quit for a decade, your risk goes down.

Limit sugar. No studies suggest sugar raises your risk for cancer. But rapid blood sugar changes may raise your risk for certain cancers. 

Drink in moderation. Drinking alcohol can raise your risk for certain types of cancers.

How VHL syndrome affects your physical and emotional health

Living with VHL can raise your stress levels. About a quarter of people with VHL report moderate to serious anxiety. And people who have VHL also are more likely to have posttraumatic stress disorder (PTSD). 

“Scanxiety” may contribute to your anxiety. Preparing for a cancer screening can stir up complex feelings. And the report wait time can add to your stress.

Here are ways to lower your stress and stay healthy:

Exercise regularly. Lower your risk for depression and sleep better with exercise. Aim for 30-60 minutes, three to five days a week. Try aerobic exercise like walking. And add resistance training to build muscle.

Practice relaxation techniques. You can relax using yoga or tai chi. Try deep breathing or guided imagery. There are also apps to suggest breathing or yoga exercises.

Try counseling. Different types of therapy can help you. Speak with a therapist or counselor. Or try talking to others who have VHL syndrome to share your experience. Sometimes hearing similar stories can help you feel supported.

Get social support. The VHL Alliance offers patients and caregivers a monthly call with a trained life coach. You can also connect with others living with VHL. Find more information here.

Practice self-care. Set time aside to see friends. Relax or pursue activities you enjoy. It can be as simple as soaking in a bath with a good book.

Talking to family about VHL syndrome

You may want to talk about VHL with your loved ones. Close family, siblings, or your children may also want to consider VHL gene testing. 

But testing can spark complex and confusing emotions. They may feel afraid or not know what to expect. You may want to refer your loved ones to a genetic counselor. This way, they can feel comfortable about asking any questions. 

If your child has VHL syndrome, you may want to share things like:

Build on what they know. Ask them what they already know about VHL. Then fill in any missing information and answer their questions.

Reassure them that all feelings are OK. It’s OK for your child to feel whatever they're feeling — mad, sad, or scared. Remind them that you love them. With a very young child, try to draw a picture to explain. Or play with dolls to help them express feelings.

Use simple, age-appropriate language. Try not to call a tumor a “boo-boo.” Stick to the facts as much as possible.

Let your child take the lead. Your child may not want to know much about VHL. That’s OK right now. You can follow up later.

How to self-advocate for VHL syndrome 

You're the best advocate for your VHL syndrome. No matter who you're talking to about VHL, here are a few ways to self-advocate:

Keep a medical diary. Write down your questions and track your symptoms. This helps you remember what to ask your doctor. At your appointment, log your medical tests and results. You can also use your journal to take notes during your visits. 

Bring backup. It’s helpful to have a second set of eyes and ears at each visit. Ask a friend or loved one to take notes. They can help ask your doctor to slow down or clearly explain.

Educate yourself. Websites like the VHL Alliance can help you learn about VHL. Look for the latest research and updates.

Make it about you. If you have specific needs, let your doctor know. Don’t be afraid to speak up. Tell your doctor if you're not getting enough information. Ask them to answer in another way if you don't understand.

Ask for help. After sharing that you have VHL, your family and friends may not know what to do. Let them know what will make your life easier. Tell them if you need dinner, a ride to your medical appointment, or time to talk. 

Don’t worry what others will think. You may feel mixed emotions about telling others. But most people want to help. Reveal as much information as you’re comfortable with. You can always provide more details later.

Don’t feel pressure to say anything. If you’re not ready to tell friends or family, that’s fine too. It’s always your decision. Tell your loved ones on your own time. And it's your decision what to say. 

Not knowing what comes next can cause stress and anxiety. But connecting with others going through similar things can help. Here are some ways to find support: 

VHL Alliance. The group has monthly telephone support meetings. You'll also find a private Facebook group. There are online discussion groups for patients, parents, and caretakers, too.

Angel Flight Northeast. This group provides free air transport for VHL patients. If you need to travel for treatment, they can help.

Patient Access Network Foundation. This network can assist you with out-of-pocket costs for your treatment. 

American Cancer Society. The society can offer support groups. It connects you to local programs, too. Some services can help you go through cancer treatment.

Most people with VHL syndrome have a good prognosis. That's true especially if you're diagnosed early, during your childhood. Active surveillance can potentially catch cancer early. 

Most VHL tumors are benign. They usually don’t spread to other parts of your body. But they can grow to impact other organs. Because some tumors are cancerous, you'll need to be monitored closely. 

Can VHL syndrome be cured?

There is no cure for VHL syndrome. But your symptoms can be managed. With active surveillance and treatment, you can avoid some complications. 

What to expect with VHL syndrome?

If you have VHL syndrome, your doctor can monitor you closely. They'll help you contact a range of specialists. These can include eye, kidney, nerve, and ear specialists. You should follow your doctor's suggested screening schedule. 

Let your doctor know if you get any unusual symptoms. Tell your doctor if you have headaches, a rapid heart rate, dizziness, or trouble seeing. 

Changes in the VHL gene lead to von Hippel-Lindau syndrome, a very rare genetic disease. VHL syndrome causes mostly benign tumors and cysts to form in different areas of your body. The syndrome raises your risk for kidney and pancreatic cancer. But close monitoring can help you get early treatment for the best outcome.

Is there a cure for VHL syndrome?

There's no cure for VHL syndrome. Treatment focuses on managing problems. Your doctor will monitor you for hemangioblastomas, benign cysts, and certain forms of cancer. 

What can I do about my VHL diagnosis?

Your doctor will regularly screen your eyes, blood pressure, heart rate, and more. You'll also get regular imaging tests like MRIs to scan for certain cancers, cysts, or benign tumors, too. Be sure to go to all of your appointments. Active surveillance can catch and treat cancer early.

Can I apply for disability after VHL diagnosis?

Yes. With a VHL diagnosis, your doctor can help you apply for disability. Depending on how VHL syndrome affects your life, you'll gather all your medical information together. Your genetic test results, imaging reports, and pathology reports are important. 

Also get your biopsies, detailed surgery reports, and any specialist care summaries, too. This information can help you specifically explain how your VHL prevents your ability to work.

How can I lower my stress on scan days?

Allow yourself to feel whatever you're feeling. Try to reach out to others who care about you. They can help reassure you. Spend time doing an activity you enjoy. It can keep your mind off the waiting. 

And remind yourself why you're getting the scan. You're catching any growths (little tumors and cancers) from getting bigger. Early treatment has the best outcome.