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|Contact Person:||Markus Jansen van Vuuren|
Von Hippel-Lindau Syndrome (VHL) is different from most other diseases in that it has no single primary symptom, it does not occur exclusively in one organ of the body, and it does not always occur in a particular age group. In the majority of cases it is an inherited disorder, where mostly benign tumours will develop because of abnormal growth of blood vessels in different organs of the body. Blood vessels normally branch out like trees; however in the case of people with VHL, knots of blood vessels (capillaries) sometimes occur in the brain, spinal cord, or retina. These knots are called angiomas, or hemangioblastomas. In other parts of the body the VHL tumours are called by other names. Cysts (fluid-filled sacs) may grow around the tumours which may exert pressure or create blockages that can cause symptoms. Cysts and tumours may also occur in the kidney, pancreas, and adrenal glands. The pressure that these tumours exert may in itself cause symptoms – they may press on nerve or brain tissue and cause symptoms such as headaches, problems with balance, or weakness of arms and legs. Tumours of the retina often grow around the periphery of the retina, away from the area of central vision and if not treated will eventually cause leakage/bleeding that can lead to serious vision damage or retinal detachment. VHL may be associated with a kind of tumour of the adrenal glands called a pheochromocytoma . These tumours produce “stress hormones” - adrenaline and noradrenaline - that are excreted into the bloodstream. The primary symptom is high or variable blood pressure that puts strain on the heart and vascular system and can cause heart attack or stroke.
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