Von Hippel-Lindau disease (VHL), also called VHL syndrome, is a rare genetic disorder that causes tumors and cysts to form throughout your body.

VHL disease can be found all over the world across all ethnicities, and it has an equal chance of affecting all genders. It affects about 1 in 36,000 people.

Because VHL leads to tumor growth, various cancers are often a complication of the disease. If you’re diagnosed with VHL, you can expect to undergo regular screenings for cancers and growths. Surgeries and radiation treatments are also common.

Noncancerous tumors can also cause unwanted complications for people with VHL disease, especially in your ears, eyes, brain, and spinal cord. With careful monitoring and treatment, though, it’s possible to minimize complications.

Is VHL considered cancer?

VHL isn’t the same as cancer, but it does increase your risk of cancer, especially kidney cancer and pancreatic cancer.

This condition causes tumors and cysts to form in various organs and tissues. These tumors can be benign, meaning they don’t spread around your body. Benign tumors are noncancerous.

VHL has the potential to cause malignant (cancerous) tumors, too, and frequently does.

Is Von Hippel-Lindau disease fatal?

VHL disease often leads to various cancers that have the potential to be fatal. Different types of cancers have different outlooks depending on your own unique circumstances and how early the cancer is found.

Benign tumors caused by VHL disease can also be fatal, especially if left untreated.

The most common cause of death in people with VHL disease is a type of slow-growing tumor in your central nervous system called hemangioblastoma. This type of tumor occurs in 13 to 72 percent of people with VHL disease.

VHL is caused by a genetic mutation or deletion. Specifically, the disorder affects the VHL gene on chromosome 3.

There’s a protein in your body called hypoxia-inducible factor (HIF), which helps your body manage how oxygen is used by cells. Your VHL gene contains the blueprints for another protein, aptly called the VHL protein (pVHL). The job of pVHL is to degrade HIF.

When the VHL gene is coded properly, pVHL and HIF are in balance. But if you have VHL disease, the blueprints for pVHL are incorrect or missing, and the protein isn’t able to do its job. This means that you end up with too much HIF protein, and that leads to unregulated cell growth in the form of tumors or cysts.

Is VHL hereditary?

VHL is hereditary, meaning that it can be passed down genetically from parents to their biological children. This isn’t the same thing as a contagion; you can’t catch VHL from someone who has it.

VHL is inherited in what’s called an autosomal dominant pattern. This means that you only need to inherit the mutated gene from one parent, not both, to have VHL. It also means that if you have a parent with VHL, but you don’t have it yourself, you don’t have to worry about being a recessive “carrier” like some other genetic disorders.

If you do have VHL, each of your biological children would have a 50 percent chance of inheriting VHL.

VHL doesn’t necessarily have to be inherited, though. About 20 percent of all VHL diagnoses are called “de novo mutations.” This means that the genetic mutation appeared on its own without having any family history of VHL disease.

Because VHL disease can cause tumors in many different parts of the body, not everyone will have the same symptoms. Your symptoms will be dictated by the size of your tumors and where they’re located.

Some common symptoms of VHL disease include:

The onset of symptoms from VHL disease can begin at any time, but most commonly they’ll begin between the ages of 18 and 30.

Much like the symptoms of VHL, complications will depend on the size and location of your tumors.

Tumors in your retina can lead to glaucoma or permanent vision loss. Tumors in your inner ear can lead to hearing loss.

Hemangioblastomas are also common and can cause ataxia, a condition where you have difficulty controlling your muscle movements.

Other common tumors associated with VHL disease include renal cell carcinoma, pancreatic neuroendocrine tumors, and pheochromocytomas.

There’s no cure for VHL disease today. Treatment usually focuses on monitoring for growths on a regular basis, because most growths are treated more effectively when found early.

If you have VHL, or if you have a close family member with VHL, you can expect to have an annual neurological examination along with an evaluation of your hearing, vision, and blood pressure. You’ll also likely have blood and urine tests performed on an annual basis.

Once you’ve reached adolescence, you’ll probably start getting MRI scans of your brain, spine, and abdomen every 1 to 2 years.

When growths are found, a doctor will help you determine the best treatment plan. In some cases, benign growths may be left alone. In other cases, you might treat growths with some of the following methods:

If you have VHL disease and are planning to have biological children, you may consider genetic counseling.

Some people with VHL may be interested in various clinical trials, which can be found at www.clinicaltrials.gov or vhl.org.

If you have an immediate family member with VHL disease, you should consider speaking with a genetic counselor and undergoing regular screenings.

If you experience the following generalized symptoms of cancerous growths, make an appointment with a doctor:

  • lumps, growths, or swelling
  • unexplained weight loss
  • unexplained pain
  • fatigue
  • changes in digestion
Medical emergency

If you’ve been diagnosed with Von Hippel-Lindau disease and are experiencing neurological symptoms, get medical attention immediately. These may include:

  • altered mental state
  • difficulty speaking
  • difficulty controlling muscle movements
  • sudden visual or auditory deficits
  • headache
  • nausea or vomiting

VHL disease is diagnosed through molecular genetic testing. A doctor might decide to pursue genetic testing if you have a family history of VHL disease or if you show symptoms of the condition, such as one or more hemangioblastomas.

Early detection of VHL disease and the tumors that it causes are crucial for your long-term outlook. When it’s combined with appropriate treatments, many people are able to reduce the disease’s effects.

The average life expectancy for people with VHL disease is 67 for men and 60 for women, although these numbers have been getting closer to the general population figures as treatments improve.

Von Hippel-Lindau disease is a genetic disorder that’s most often inherited, but could also be a de novo genetic mutation. It causes your VHL proteins to be faulty, which then leads to unregulated cellular growths, such as tumors.

Symptoms of VHL usual present in your late teens or twenties. Common tumor locations include your retinas, inner ears, brain, spine, kidneys, and pancreas.

Early detection and treatment of tumors is key to improving your outlook, so it’s important to schedule regular checkups with your doctor or specialist.