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 Von Hippel-Lindau disease  

 

 


What is Von Hippel-Lindau Disease (VHL)?

von Hippel-Lindau disease (VHL) is a rare, genetic multi-system disorder characterized by the abnormal growth of tumors in certain parts of the body (angiomatosis). The tumors of the central nervous system (CNS) are benign and are comprised of a nest of blood vessels and are called hemangioblastomas. Hemangioblastomas may develop in the brain, the retina of the eyes, and other areas of the nervous system. Other types of tumors develop in the adrenal glands, the kidneys, or the pancreas. Symptoms of VHL vary among patients and depend on the size and location of the tumors. Symptoms may include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems, and high blood pressure. Cysts (fluid-filled sacs) and/or tumors (benign or cancerous) may develop around the hemangioblastomas and cause the symptoms listed above. Individuals with VHL are also at a higher risk than normal for certain types of cancer, especially kidney cancer.

Race

von Hippel-Lindau disease affects all races and ethnic groups. No differences in incidence have been reported.

Sex ratio
No sex predilection is noted.

Age factor
Age at diagnosis varies from infancy to age 60-70 years. The average age of clinical diagnosis in patients is 26 years.

Treatment

Medical care for people with von Hippel-Lindau disease depends on which tumors they have. Many tumors can be removed by surgery; some do not need to be removed unless they are causing symptoms (for example, a brain tumor pressing on part of the brain). Individuals with von Hippel-Lindau need to have complete physical examinations regularly, including magnetic resonance imaging (MRI) or computed tomography (CT) scans of the brain, abdomen, and kidneys to watch for new tumors. Eye examinations should also be done regularly, since eye tumors may develop.

Close watch should be kept over any kidney cysts. These may be removed surgically to reduce the risk of developing kidney cancer. The risk of someone with von Hippel-Lindau disease developing kidney cancer by age 60 is 70%. The good news is that if cancer does not develop by then, it will most likely not develop at all.

Genetic testing can also be helpful to identify family members at risk of developing von Hippel-Lindau disease. The disease is inherited in autosomal dominant fashion, meaning only one defective gene is needed for the disease to develop. Children of an affected person each have a 50% chance of developing the disease.

What is the prognosis?

The prognosis for patients with VHL depends on the location and complications of the tumors. Untreated, VHL may result in blindness and/or permanent brain damage. With early detection and treatment the prognosis is significantly improved. Death is usually caused by complications of brain tumors or kidney cancer.


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