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Von Hippel–Lindau Disease (VHL)

By Margaret C. McBride, MD, Professor of Pediatrics;Pediatric Neurologist, NeuroDevelopmental Science Center, Northeast Ohio Medical University;Akron Children’s Hospital ; M. Cristina Victorio, MD, Assistant Professor in Pediatrics;Director, Headache Program; Pediatric Neurologist, Northeast Ohio Medical University;Akron Children's Hospital

Von Hippel-Lindau disease is a rare hereditary disorder that causes noncancerous and/or cancerous tumors to develop in several organs.

  • Children may have headaches, impaired vision, or high blood pressure and feel dizzy or weak.

  • Doctors suspect the disorder based on the person’s family history and results of a physical examination, then do imaging and other tests to check for tumors and other problems.

  • Tumors are removed surgically, treated with radiation, or destroyed using a laser or application of extreme cold.

Tumors most commonly develop in the brain and retina of the eyes. These tumors, called angiomas, consist of blood vessels. Other types of tumors develop in other organs and include tumors in the adrenal glands (pheochromocytomas) and cysts in the kidneys, liver, or pancreas. As people with the disorder age, the risk of developing kidney cancer increases. By age 60, about 70% of people have developed kidney cancer.

The gene that causes von Hippel-Lindau disease has been identified. Only one gene for the disorder—from one parent—is required for the disorder to develop. Each child of an affected parent has a 50% chance of inheriting the disorder. In 20% of people with this disorder, it results from a spontaneous—a new (not inherited)—mutation. This disorder occurs in 1 of 36,000 people.

Symptoms

Typically, symptoms of von Hippel-Lindau disease appear between ages 10 and 30, but they can appear earlier.

Symptoms depend on the size and location of the tumors. Children may have headaches and feel dizzy or weak. Vision may be impaired, and blood pressure may be high. Coordination may be lost. About 10% of affected children have a tumor of the inner ear, which may impair hearing.

Angiomas in the retina usually cause no symptoms, but if they enlarge, they can cause substantial loss of vision. When these angiomas are present, the retina may become detached, fluid may accumulate on or under the macula (the central part of the retina), and the optic nerve may be damaged by increased pressure within the eye (glaucoma).

Without treatment, people may become blind, have brain damage, or die. Death usually results from complications of brain angiomas or kidney cancer.

Diagnosis

  • Imaging tests

  • Eye examination

Doctors determine whether any family members have von Hippel-Lindau disease and do a physical examination.

If findings suggest the disorder, various tests are done to check for tumors and other abnormalities:

  • Computed tomography (CT) or magnetic resonance imaging (MRI) of the brain

  • An eye examination including ophthalmoscopy

  • Ultrasonography or CT of the abdomen

  • Hearing tests

  • Blood tests

Von Hippel-Lindau disease is diagnosed when typical tumors are detected and one of the following is present:

  • More than one angioma in the brain or eye

  • One angioma in the brain or eye plus one elsewhere in the body

  • A family history of von Hippel-Lindau disease plus one angioma

If doctors detect one angioma, they look for others.

Genetic testing is done to check for the abnormal gene in family members. If an abnormal gene is detected, family members are monitored for tumors for the rest of their life.

Treatment

  • Surgery or sometimes radiation therapy

  • For retinal angiomas, laser therapy or application of extreme cold

Tumors are surgically removed, if possible, before they cause permanent damage. High-dose radiation therapy, focused on the tumor, can sometimes be used instead.

Typically, angiomas of the retina are destroyed using laser therapy or application of extreme cold (cryotherapy). These procedures help preserve vision.

Tests used to detect tumors are repeated every 1 or 2 years and when symptoms occur because new tumors may develop.