The animated videos in NORD’s Rare Disease Video Library provide brief introductions to rare disease topics for patients, caregivers, students, professionals and the public. NORD collaborates with medical experts, patient organizations, videographers and Osmosis to develop the videos, which are made possible by individual donations, educational grants and corporate sponsorships. NORD is solely responsible for the content.
VHL or von Hippel-Lindau disease is a rare genetic disorder associated with an increased risk of developing certain tumors. VHL disease is caused by a deletion or disease-causing variant (mutation) in the VHL gene. People who have VHL disease may experience 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. The mean age of onset is 26 years and 97% of people with a VHL gene variant have symptoms by the age of 65.
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 different in every patient, 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.
