Von Hippel-Lindau Disease

What are the signs and symptoms of Von Hippel-Lindau disease?

Symptoms of VHL vary widely and depend on the size and location of the tumors. These factors can make a big difference on what symptoms each patient may feel, depending if the tumor is putting pressure on an organ, the brain or an artery.

Von Hippel-Lindau symptoms may include:

• Headaches
• Dizziness
• Problems with balance and walking
• Weakness in the limbs
• Vision problems
• Deafness in one ear
• High blood pressure

What tests are used to diagnose Von Hippel-Lindau disease?

We will need to perform a genetic test to determine if your child has VHL. This quick and painless test can be done by getting a DNA sample by swabbing the inside of the cheek.

How is Von Hippel-Lindau disease treated?

Treatment for VHL depends on the number, location, size and complications caused by the tumors. Treatment of most cases of VHL usually involves surgery to remove the tumors before they grow large enough to become harmful. Children with VHL need careful monitoring by a doctor or medical team familiar with the disorder.

Renal tumors (those found on the kidney) are observed until the largest tumor grows to about 3 centimeters; then all the tumors on that kidney are surgically removed with multiple partial nephrectomy.

What is a multiple partial nephrectomy?

Multiple partial nephrectomy is a surgical method used to remove the tumors while leaving as much of the kidney intact as possible.

Tumors found on the adrenal glands are removed when they are detected. Some tumors can be treated with focused high-dose radiation.

What happens if the tumors are not removed?

Early detection and treatment significantly improve the outcome of VHL disease. If left untreated, VHL can result in the spread of renal tumors, blindness and permanent brain damage. VHL can sometimes lead to death, which is usually caused by complications of brain tumors or kidney cancer.

Why choose us for treatment of Von Hippel-Lindau disease?

The Department of Pediatric Urology at Children's Colorado is part of the University of Colorado Cancer Center's VHL Family Alliance Clinical Care Center. These centers are committed to providing outstanding holistic, coordinated care for VHL patients.

We are one of just several nationwide programs to be recognized by the VHL Family Alliance and the only one in the Rocky Mountain region.

Experts from Children's Colorado also contribute to a collaborative effort with centers across the country to improve diagnosis and treatment of VHL. By sharing resources and knowledge, we are able to provide the most modern and innovative treatment for our patients.

• The VHL Alliance (VHLA) is dedicated to research, education and support to improve awareness, diagnosis, treatment and quality of life for those affected by VHL.
• The National Organization for Rare Disorders (NORD) is a nonprofit, patient advocacy organization. It is committed to the identification, treatment and cure of rare disorders through programs of education, advocacy, research and patient services.