Von Hippel-Lindau Disease

Von Hippel-Lindau (VHL) disease is an inherited multi-system disorder characterized by abnormal growth of blood vessels in certain parts of the body. While blood vessels normally grow like trees, in people with VHL little knots of blood capillaries sometimes occur. These knots are called angiomas or hemangioblastomas.

The disease is different in every patient. Growths may develop in the retinas, certain areas of the brain, the spinal cord, the adrenal glands and other parts of the body. Lesions in the retina may cause retinal detachment and eventual blindness. Cataracts and glaucoma may occur as well. Angiomas in the brain or spinal cord may press on nerve or brain tissue and cause symptoms such as headaches, problems with balance in walking, or weakness of arms and legs. However, symptoms vary greatly and depend on the size and location of the growths.

Von-Hippel Lindau disease is transmitted genetically. It is caused by a dominant type of gene. A child receives one gene of each pair from each parent. If one parent has a dominant gene, each child has a 50-50 chance of inheriting that gene.

Age of onset varies but is most common in the fourth decade. People with von Hippel-Lindau disease are also predisposed to certain types of malignant tumors, i.e, renal cell carcinoma.

Screening methods include a thorough eye exam, a physical exam including blood pressure check and neurological examination, imaging of the head and an ultrasound of the abdomen. With careful monitoring, early detection and appropriate treatment, the harmful effects of the defective VHL gene can be greatly reduced, or perhaps even prevented entirely.

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Named for Eugen von Hippel, German ophthalmologist (1867-1939),
Arvid Lindau, Swedish pathologist (1892-1958)

Microscopic section of hemangioblastoma, a tumor of the cerebellum characteriztically found in patients with von Hippel-Lindau disease

IMAGE CREDIT: Kevin Roth and Robert Schmidt, Washington University, St. Louis, MO, USA

The VHL gene maps to chromosome 3

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