Von Hippel-Lindau Syndrome

What is Von Hippel-Lindau syndrome (VHL)?

Von Hippel-Lindau syndrome (VHL), also known as Von Hippel-Lindau disease, is a rare condition that causes tumors and cysts (fluid-filled sacs) to grow in your body. They can grow in your:

• Brain
• Spinal cord
• Eyes
• Inner ears
• Kidneys
• Pancreas
• Adrenal glands
• Organs involved in having children

The tumors are usually benign (non-cancerous) and may not cause problems. People with VHL syndrome often develop hemangioblastomas, a benign growth made up of many blood vessels. If these get too large and press on the brain or spinal cord, they may cause problems with things like vision or hearing.

Some tumors, such as those in the kidney and pancreas, can become cancerous.

What causes Von Hippel-Lindau syndrome (VHL)?

VHL is a genetic disease. It is caused by a change (variant) in the VHL gene. Most people with VHL inherit the gene change, which means that it is passed down from parent to child. In some people, there is no family history of VHL, and the gene changes on its own.

What are the symptoms of Von Hippel-Lindau syndrome (VHL)?

The symptoms of VHL depend on the size and location of the tumors. Some people have no symptoms for many years. Some specific symptoms may include:

• Headaches
• Problems with balance and walking
• Dizziness
• Weakness of the limbs
• Vision problems
• Hearing loss or ringing in the ears
• High blood pressure

How is Von Hippel-Lindau syndrome (VHL) diagnosed?

Finding and treating VHL early is important. Your health care provider may suspect that you have VHL if you have certain types of cysts and tumors. There is a genetic test for VHL. If you have it, you will need other tests, including imaging tests and eye exams, to look for tumors and cysts.

What are the treatments for Von Hippel-Lindau syndrome (VHL)?

Treatment can vary from person to person and will depend on the location and size of the tumors and cysts. Treatments may include:

• Medicines that may help slow the growth of certain tumors
• Radiation therapy
• Surgery

Typically, the goal is to treat growths when they are small, before they can cause permanent damage. But certain tumors may not be treated until symptoms begin to develop.

Regular checkups by a health care team familiar with VHL will allow for careful monitoring and early treatment.

NIH: National Institute of Neurological Disorders and Stroke