Von Hippel-Lindau Disease

Von Hippel-Lindau Disease: The Basics

Von Hippel-Lindau (VHL) disease is a disorder that causes tumors or cysts in different parts of the body. Some tumors are benign, while others are cancerous. Even noncancerous tumors may lead to other issues and could require treatment, however.

VHL disease is an inherited condition and typically, tumors begin to develop in young adulthood. It is caused by a mutation in the VHL gene.

“It’s a rare genetic disease. It causes
blood vessel-based tumors in many organs throughout the body” – Dr. Craig Rogers

The types of tumors typically associated with this disease include:

• Hemangioblastomas (slow-growing tumors in the central nervous system)
• Kidney cysts and clear cell renal cell carcinoma
• Pancreatic neuroendocrine tumors
• Pheochromocytomas (noncancerous tumors in the adrenal glands)
• Endolymphatic sac tumors

Dr. Craig Rogers, Chair of Urology at Henry Ford Health, explains what causes VHL.

What are the Symptoms of VHL?

The symptoms of VHL vary depending on where in the body tumors are developing, as well as their size.

Hemangioblastomas, which develop in the brain and spinal cord, may cause:

• Headaches
• Vomiting
• Weakness
• Loss of muscle

Hemangioblastomas can also develop in the retina, the tissue that lines the back of the eye. These tumors can affect vision.

Phechromocytomas, which affects the adrenal glands located on top of each kidney, often do not cause symptoms. Occasionally, these tumors may cause a spike in blood pressure.

A small percentage of people with VHL disease (about 10%) may go on to develop endolymphatic sac tumors, which are noncancerous tumors in the inner ear. These can lead to hearing loss and problems with balance.

Since the disease is rare, it’s not recommended that everyone be screened for VHL, but those with a close family member with the disease may want to consider genetic testing.

“Family members may want to go in and get genetic testing to see if they have it, if family members have it” – Dr. Craig Rogers

“We wouldn’t recommend everyone go out and get screened head to toe for all these tumors, but it becomes very important, if someone is a member of a family where a family member has VHL and there’s a potential that they have it,” Dr. Craig Rogers, Chair of Urology at Henry Ford Health, tells SurvivorNet. “Family members may want to go in and get genetic testing.”

Symptoms of VHL can occur at any time, and it is impossible to predict exactly how the disease will present or progress. This makes regular surveillance exceedingly important for people living with VHL. The average age of onset for the condition is 26 years old, according to the National Organization for Rare Disorders, and 97% of people with the VHL gene mutation will experience symptoms by age 65.

Is There a Link to Cancer?

People who have VHL disease have a higher risk of developing certain types of cancer, especially kidney cancer. Renal cell carcinoma, a type of kidney cancer, occurs in about 70% of people with VHL disease by age 60, according to the Genetic and Rare Diseases Information Center.

How is VHL Diagnosed?

A patient may be diagnosed with VHL disease after displaying some symptoms or when a genetic test reveals a mutation in the VHL gene.

If a doctor suspects VHL disease, tests they may use to diagnose it include:

• An MRI of the brain and spinal cord
• Fundoscopy (a test that allows doctors to see inside the fundus of the eye)
• Ultrasound examination or MRI of the abdomen
• Blood and urinary catecholamine metabolites (which checks for high hormone levels that could be a sign of rare adrenal tumors)