Von Hippel-Lindau disease is a rare hereditary disorder that causes noncancerous and/or cancerous tumors to develop in several organs.
Von Hippel-Lindau disease is caused by mutations in a gene.
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.
Von Hippel-Lindau disease is a neurocutaneous syndrome. A neurocutaneous syndrome causes problems that affect the brain, spine, and nerves (neuro) and the skin (cutaneous).
The gene that causes von Hippel-Lindau disease has been identified. Only 1 gene for the disorder—from 1 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 new (not inherited) mutation. This disorder occurs in 1 of 36,000 people.
In von Hippel-Lindau disease, 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, the risk may be as high as 70%.
Symptoms of VHL
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 in 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 of VHL
Imaging tests
Eye examination
Genetic testing
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 and spine
An eye examination including ophthalmoscopy
Ultrasonography, CT, or MRI of the abdomen
Hearing tests
Blood tests
Von Hippel-Lindau disease is diagnosed when 1 of the following is present:
A family history of von Hippel-Lindau disease plus at least 1 characteristic tumor in the eyes, brain, spine, adrenal glands, kidneys, or pancreas
Two or more characteristic von Hippel-Lindau disease tumors in people who have no known family history of von Hippel-Lindau disease
If doctors detect 1 tumor, they look for others.
If doctors are still unsure of the diagnosis, they do tests that analyze chromosomes (molecular genetic testing) to identify the abnormal VHL gene and confirm the diagnosis.
If the abnormal VHL gene is identified in a person, genetic testing is done to check for the abnormal gene in family members.
Treatment of VHL
Surgery or sometimes radiation therapy
For angiomas of the retina, 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. People who have tumors in the adrenal glands may also need medications to control their blood pressure. People who have advanced kidney cancer may be given other medications.
Typically, angiomas of the retina are destroyed using laser therapy or application of extreme cold (cryotherapy). These procedures help preserve vision.
Screening for new problems
Because new complications and tumors can develop in von Hippel-Lindau disease, affected people must be closely monitored for the rest of their life.
In people who have been diagnosed with von Hippel-Lindau disease, the following screening examinations and tests are repeated every 1 or 2 years and when symptoms occur:
Physical examination
Eye examination to screen for eye tumors
Blood pressure checks and urine and blood tests to screen for pheochromocytomas
Magnetic resonance imaging (MRI) of the brain and spine to screen for tumors
Hearing tests to screen for inner ear tumors
MRI or ultrasonography of the abdomen to screen for kidney cancer, pheochromocytomas, and pancreas tumors
In people who have not been diagnosed with von Hippel-Lindau disease but who have the abnormal gene or who have not been tested but who have a parent or sibling with von Hippel-Lindau disease, blood pressure monitoring and examinations to look for vision, hearing, and eye problems are done every year.
