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.

Various cancers are a result of the disease. If you are diagnosed with VHL, you will be expected to have regular screenings for cancer and growths. Surgeries and radiation treatments are very common.

VHL disease can cause tumors in your ears, eyes, brain, and spine. It is possible to minimize the risk of problems with careful monitoring and treatment.

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 can lead to various cancers that can be fatal. Different types of cancers have different outlooks on how they are found and treated.

If left unattended, benign tumors caused by VHL disease can be fatal.

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 abnormality. The VHL gene is affected by the disorder.

Your body has a molecule in it called HIF, which helps it manage how oxygen is used. The blueprints for the VHL protein are in your VHL gene. The job of pVHL is to degrade.

“The VHL gene is in balance when it is properly coding. 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, and that leads to unregulated cell growth, which can cause tumors or cysts.”

Is VHL hereditary?

“VHL can be passed down from parents to their children. You can’t catch VHL from someone who has it, it’s not the same as a contagion.”

“VHL is an inheritable pattern. You only need to inherit the VHL from one parent, not both. It also means that if you don’t have a parent with VHL, you don’t have to worry about being a 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.

VHL disease can cause tumors in many different parts of the body, so not everyone will have the same symptoms. The size of your tumors will affect your symptoms.

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.

The symptoms of VHL are similar to the ones of 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 is no cure for VHL disease. Monitoring for growths is usually the focus of treatment, because most growths are treated more effectively when found early.

If you have VHL, you can expect to have an annual neurological examination along with an evaluation of your hearing, vision, and blood pressure. You will probably have blood and urine tests performed on an annual basis.

You will probably get an MRI every 1 to 2 years after you reach adolescence.

A doctor will help you decide on a treatment plan. In some cases, benign growths may be left alone. Some of the methods you might use to treat growths are listed.

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 a family member with VHL disease, you should speak with a genetic counselor.

If you experience any of the symptoms, you should see a doctor.

  • Growths, or swelling, are the types of lump.
  • unexplained weight loss
  • unexplained pain
  • fatigue
  • Changes in the way that we digest.

Medical emergency

If you have been diagnosed with Von Hippel-Lindau disease, you should get medical attention immediately. These may include:

  • Altered mental state.
  • Difficult speaking
  • Difficult to control muscle movements.
  • There are sudden visual or hearing deficits.
  • There is a throbbing head.
  • 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.

“VHL disease and the tumors that it causes are important for your long-term outlook. Many people can reduce the disease’s effects when it’s combined with appropriate treatments.”

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 is most often passed on, but could also be a de novo genetic abnormality. It causes your VHL to be faulty, which leads to unregulated cellular growths.

VHL symptoms are present in your late teens or twenties. Your brain, spine, kidneys, and pancreas are some of the common tumors.

Regular checkup with your doctor or specialist is important to detect and treat tumors early on.