Von Hippel-Lindau Disease

Von Hippel-Lindau disease (VHL) is a rare, genetic disease that causes tumors and cysts to grow in your body. The tumors can be either cancerous or benign. They can grow in your brain and spinal cord, kidneys, pancreas and, in men, their genital tract. Symptoms of VHL vary and depend on the size and location of the tumors. They may include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems and high blood pressure.

Detecting and treating VHL early is important. Treatment usually involves surgery or sometimes radiation therapy. The goal is to treat growths while they are small and before they do permanent damage.

National Institute of Neurological Disorders and Stroke

Von Hippel-Lindau Disease on Wikipedia

'''Von Hippel-Lindau disease''' (VHL) is a rare disease inherited genetic condition involving the abnormal growth of tumors in parts of the body which are particularly rich in blood supply.

Features

Features of VHL are: * angiomatosis - little knots of capillary in various organs. These tend to be cavernous hemangiomas, which are sharply defined, sponge-like tumors composed of large, dilated, cavernous vascular spaces. * hemangioblastomas - tumors of the central nervous system (CNS, especially the cerebellum). These tumors, whether benign (usual) or malignant (rarer), may cause problems, for example angiomas in the brain or spinal cord may press on nerve or brain tissue. As an angioma grows, the walls of the blood vessels may weaken and leak, causing damage to surrounding tissues. Blood leakage from angiomas in the retina can interfere with vision. Cysts may also grow around angiomas. * pheochromocytoma - tumors of the adrenal medulla that often produce catecholamines * renal cell carcinoma - in some forms Untreated, VHL may result in blindness and permanent brain damage, death is usually caused by complications of malign tumors in the brain or kidney.

Types

There are various subtypes (see OMIM): * Type 1 (angiomatosis without pheochromocytoma) * Type 2 (angiomatosis with pheochromocytoma) ** Type 2A (with renal cell carcinoma) ** Type 2B (without renal cell carcinoma) ** Type 2C (only pheochromocytoma and no angiomatosis or renal cell carcinoma)

Genetics

The disease is caused by mutations of the ''VHL'' gene on the short arm of the third chromosome (3p26-p25). The resultant protein is produced in two forms, an 18 kDa and a 30 kDa protein that functions as a tumor suppressor gene VHL is an autosomal dominant disorder, but there is a wide variation in the age of onset of the disease, the organ system affected and the severity of effect. Most people with von Hippel-Lindau ... [ Read More ]

External Resources

Von Hippel-Lindau Family Alliance - Information about the organization and the disease. Includes FAQs, newsletter, handbook, meeting schedules and support group data. (Include links to Canadian, Dutch, Japanese and European branches) [English/Spanish/Portuguese/German/Danish/Dutch]

Radiology: Von Hippel Lindau Disease - Genetic, clinical and imaging features from the NIH.

Family Village - Links to chat rooms, web sites and information about Von Hippel Lindau's disease.

Von Hippel-Lindau Disease - Information sheet on this disease compiled by NINDS, the National Institute of Neurological Disorders and Stroke.

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Von Hippel-Lindau Disease