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Von Hippel-Lindau disease (VHL) is a rare genetic disorder associated with an increased risk of developing certain tumors. People who have VHL disease may have tumors and/or cysts in up to ten parts of the body, including the brain, spine, eyes, kidneys, pancreas, adrenal glands, inner ears, reproductive tract, liver and lung.
Most VHL tumors are benign (not cancerous), but benign VHL tumors can still be very serious. As they grow, these tumors and the associated cysts can cause increased pressure on the structure around them. This pressure can create symptoms including severe pain or other problems.
VHL disease is caused by a deletion or disease-causing change (variant) in the VHL gene. VHL disease is different in every affected person, even within the same family. Since it is impossible to predict how and when the disease will present for each person, it is important to check regularly for possible VHL manifestations throughout a person’s lifetime.