Von Hippel-Lindau syndrome

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An advanced case of 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 or hemangioblastomas. Growths may develop in the retina, certain areas of the brain, the spinal cord, the adrenal glands and other parts of the body.

Symptoms

  • Eye hemangiomas
  • Cerebellum hemangiomas
  • All Symptoms depending on the location of the tumor

Genetics

The gene for Von-Hippel Lindau disease (VHL) is found on chromosome 3 (3p25-26), and is inherited in a dominant fashion. As long as one copy of the VHL gene is producing functional VHL protein in each cell, tumors do not form.

Treatment

Treatment for VHL varies according to the location and size of the tumor and its associated cyst. But there is no current way to reverse the presence of the VHL mutation in patients. Nonetheless, early recognition and treatment of specific manifestations of VHL can substantially decrease complications and improve quality of life.

For more information visit: Von Hippel–Lindau disease