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What is Von Hippel-Lindau Disease?

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  • Written By: Mary McMahon
  • Edited By: Bronwyn Harris
  • Last Modified Date: 29 August 2016
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Von Hippel-Lindau disease is a genetic disorder caused by a mutation on the third chromosome. In healthy individuals, the chromosome has a Von Hippel-Lindau tumor suppressor, while individuals with the disorder are lacking this suppressor. As a result, clusters of largely benign tumors made from blood vessels appear in areas of the body which are rich in blood. There is no cure for Von Hippel-Lindau disease, but if it is caught early, the symptoms can be addressed and treated.

The disease is named for Eugen von Hippel and Arvid Lindau, scientists who observed the progressive growth of the tumors characteristic of the disease in the early 1900s. In the 1960s, the problem was more closely identified, and named Von Hippel-Lindau disease for the scientists who had laid the research ground work. Lindau was the first to identify the tumors of the central nervous system which appear in most patients, in the 1920s, and von Hippel identifed ocular tumors, which appear in approximately half of patients diagnosed, in 1904.

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Tumors of the central nervous system called angioblastomas are the most common symptom of Von Hippel-Lindau disease. These tumors are usually benign, but if they are allowed to grow, they can put pressure on the brain and spinal cord, resulting in brain damage, headaches, dizziness, and difficulty walking. Around 60% of patients may get tumors on their kidneys and pancreas, and a smaller percentage experience retinal tumors, which can lead to blindness. 10-20% of patients experience tumors on their adrenal gland, which can cause behavioral problems, and approximately 10% of patients have been known to grow tumors in their ears.

The tumors are the distinguishing factor of Von Hippel-Lindau disease. The abnormal growth of blood vessels into tumors is called angiomatosis, and it makes the tumors difficult to treat because of the ample blood supply. Surgery is an option for some tumors, as is radiation. If identified early, the growth of the tumors may be able to be arrested, allowing the patient to live a relatively normal life. If caught late, or extremely aggressive, the tumors can ultimately kill the patient.

Approximately one in every 35,000 people has Von Hippel-Lindau disease, which is diagnosed by a doctor if one or more of the characteristic tumors appears in a patient. Onset of Von Hippel-Lindau disease varies; some patients manifest symptoms as early as 10, while others may live into their 30s or 40s before signs of the disease emerge. If someone is genetically predisposed because a parent has the disease, routine screening for Von Hippel-Lindau disease should be undertaken on a regular basis. In this way, early signs of the disease can be quickly caught and treated.

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