Von Hippel-Lindau Disease
Pronounced: VON HIP-el LIN-doEn Español (Spanish Version)
Von Hippel-Lindau disease (VHL) is a rare genetic disorder in which some blood vessels grow in an abnormal way and cause tumors in parts of the body that are rich in blood vessels.
VHL is caused by an abnormal change in a gene on chromosome 3, which normally functions to produce a protein that acts as a suppressor of tumor growth. This gene mutation, which is passed on from parent to child, results in the uncontrolled growth of some capillaries. Capillaries are tiny blood vessels. Instead of growing normally like the branches of a tree, these blood vessels grow in a small knot. The knot forms a growth or tumor called an angioma or a hemangioblastoma, most commonly in the eye and brain. VHL is also associated with other tumors, some of which are cancerous, as well as abnormal cysts throughout the body.
Last reviewedAugust 2013by Michael Woods, MD
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