Children's Hospital Colorado

Von Hippel-Lindau Disease

What is Von Hippel-Lindau disease?

Von Hippel-Lindau (VHL) disease is a rare, genetic multisystem disorder in which cancerous and non-cancerous tumors grow in different parts of the body. A multisystem disorder or disease means that it affects multiple organs and tissues within the body.

Children with VHL disease are at a higher risk of developing kidney cancer (renal cell carcinoma) and kidney cysts. Slow-growing hemangioblastomas tumors, which have many blood vessels, may develop in the brain, spinal cord, retinas of the eyes and near the inner ear. Cysts (fluid-filled sacs) may also develop around the hemangioblastomas. Other types of tumors develop in the adrenal glands located at the top of the kidney (pheochromocytomas) or the pancreas.

What causes Von Hippel-Lindau disease?

VHL is an autosomal dominant condition that can be inherited or can arise as a new genetic mutation. The mutation affects the VHL gene on chromosome 3, which leads to the loss of control over cellular growth in certain parts of the body.

Who gets Von Hippel-Lindau disease?

The disease is caused by a genetic mutation, which can be inherited, or passed on, from a parent or relative. It can also form as a new genetic mutation, meaning that it did not previously exists in a relative. Genes are made up of deoxyribonucleic acid (DNA), which is the blueprint for how your body is formed and how it functions.

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.
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