Von Hippel–Lindau Disease (VHL)

Von Hippel-Lindau disease is a genetic disorder that causes tumors to form in several organs. The most common tumors are made out of blood vessels (angiomas) and form in the brain and back of the eyes (retina). Other types of tumors form in the adrenal glands, kidney, liver, and pancreas. The tumors may or may not be cancerous.

• Symptoms depend on the location of the tumors and typically appear between ages 10 and 30 

• Genetic testing is done on your child and also on all members of the immediate family

• Treatment is surgery to remove tumors when possible

• Your child will need frequent imaging studies to identify tumors because early treatment is most effective

People with von Hippel-Lindau disease are at risk of kidney cancer as they get older.

Von Hippel-Lindau disease is a genetic disorder caused by an abnormal gene.

Sometimes, the baby inherited the abnormal gene from a parent. Other times, the baby is the first person in the family to have the abnormal gene.

Symptoms usually begin to show between the ages of 10 and 30 years.

Symptoms depend on the size and location of the tumors. Your child may:

• Have headaches

• Feel dizzy and weak

• Have high blood pressure

• Have difficulty hearing

• Have vision loss, if a tumor in the back of the eye enlarges

If doctors suspect your child has von Hippel-Lindau disease, they do:

• Eye exams

• CT scans and MRIs (scans showing detailed pictures) to check for brain tumors

If these tests suggest von Hippel-Lindau disease, doctors do other imaging tests to look for other tumors. They also do genetic tests to check for the abnormal gene.

Family members also need to be examined and have tests to see if they have the disorder too.

Because tumors can appear later on, people are checked regularly for tumors.

• Tumors are removed with surgery

• Sometimes tumors are treated with radiation

• Blood vessel tumors in the back of the eye usually are treated with lasers or freezing

Doctors do tests to check for new tumors every 1 to 2 years. There's no cure, but treatment can help your child avoid blindness or brain damage. Complications from brain tumors or kidney cancer can be fatal.

Usually this disease cannot be prevented.

If you have von Hippel-Lindau disease in your family and you're planning on having children, you can get genetic tests to see if you carry the gene that can cause this disease. Genetic counseling can help determine the risk of your child having the disease.