About Von Hippel–Lindau Disease (VHL)

Von Hippel–Lindau Disease (VHL) is a rare inherited disorder that affects 1 out of 32,000 people worldwide. The VHL gene is normally responsible for making a tumour suppressor protein. When the VHL gene is mutated or inactivated, multiple tumour growth occurs in different organs of the body. Though VHL is an inherited disorder, spontaneous mutations can occur.

The resulting tumours are also highly vascularised as there is an abnormal growth of blood vessels supporting these tumours. While blood vessels normally branch out like trees, in people with VHL little knots of blood capillaries sometimes occur in the brain, spinal cord or retina. These little knots are called angiomas or hemangioblastomas. In other parts of the body such as the kidney, pancreas, adrenal glands, endolymphatic sac and scrotal sacs the tumours are called by other names.

The tumours themselves may cause problems, or problems may develop around them. For this reason they need to be carefully monitored by your medical team. VHL is very different in every patient. Even in the same family, people may show only one or several features of VHL.