Von Hippel-Lindau Syndrome
Von Hippel-Lindau syndrome is an inherited multi-system disorder characterized by abnormal growth of blood vessels. While blood vessels normally grow like trees, in people with VHL little knots of blood capillaries sometimes occur. These knots are called angiomas; true tumours, haemangioblastomas, can also develop.
Growths may develop in the retina of the eye, certain areas of the brain or other areas of the nervous system. These tumours are benign. Other types of growth may develop in the spinal cord, the adrenal glands, the kidneys or the pancreas.
The gene for von Hippel-Lindau disease (VHL) is found on chromosome 3, and is inherited in a dominant fashion. If one parent has a dominant gene, each child has a 50-50 chance of inheriting that gene. Diagnosis is usually made when tests are conducted because there is a family history of the disorder.
The symptoms of von Hippel-Lindau Disease vary greatly and depend on the size and location of the growths. People with von Hippel-Lindau Disease are genetically predisposed to certain types of malignant tumours (eg renal cell carcinoma).
VHL is a rare disorder. Most people with it will begin having clinically significant issues in their teens or twenties, but occasionally no symptoms are apparent until much later in life.
Treatment for VHL varies according to the location and size of the tumours and associated cysts. In general, the aim of treatment is to treat the growths while they are still small so that they do not cause permanent problems by putting pressure on the brain or spine, blocking the flow of cerebrospinal fluid in the nervous system, or impairing vision.
Treatment of most cases of VHL usually involves surgery to remove the tumours before they become harmful. Some tumours can be treated with high-dose irradiation.
Individuals with VHL need careful monitoring by a physician and/or medical team familiar with the disorder.
The prognosis for patients with VHL depends on the location and complications of the tumours. Untreated, VHL may result in blindness and/or permanent brain damage. With early detection and treatment the prognosis is significantly improved. Death is usually caused by complications of brain tumours or kidney cancer.
Further Information and Support
National Institute of Neurological Diseases and Stroke – USA
Reviewed by Professor Nicholas Dorsch, Department of Neurosurgery, Westmead Hospital
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