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Von Hippel-Lindau disease
Von Hippel-Lindau disease (VHL) is a rare inherited genetic condition involving the abnormal growth of tumors in parts of the body which are particularly rich in blood supply.
Additional recommended knowledge
Features of VHL are:
Untreated, VHL may result in blindness and permanent brain damage; death is usually caused by complications of tumors in the brain or kidney, cardiovascular disease secondary to pheochromocytoma. With early detection and appropriate treatment, there is more hope today for people with VHL than ever before.
There are various subtypes:
The disease is caused by mutations of the Von Hippel-Lindau tumor suppressor (VHL) gene on the short arm of third chromosome. 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 syndrome inherit an altered copy of the gene from one parent. In about 20 percent of cases, however, the altered gene is the result of a new mutation that occurred during the formation of reproductive cells (eggs or sperm) or early in fetal development.
As long as one copy of the VHL gene is producing functional VHL protein in each cell, tumors do not form. If a mutation occurs in the second copy of the VHL gene during a person's lifetime, the cell will have no working copies of the gene and will produce no functional VHL protein. A lack of this protein allows tumors characteristic of von Hippel-Lindau syndrome to develop.
Eugen von Hippel described the angiomas in the eye in 1904.. Arvid Lindau described the angiomas of the cerebellum and spine in 1927.
In an article appearing in the Associated Press, it has been speculated by a Vanderbilt University endocrinologist that the hostility underlying the Hatfield-McCoy feud may have been partly due to the consequences of Von Hippel-Lindau disease. The article suggests that the McCoy family was pre-disposed to bad tempers because many of them had a pheochomocytoma, which produced excess adrenaline and a tendency toward explosive tempers. Pheochromocytomas produce surges of adrenaline which are more often perceived as panic attacks than rage attacks. Left untreated, they will cause serious cardiovascular disease, heart attack, and stroke. Only about 20% of people with VHL get pheochromocytomas.
Other names are: angiomatosis retinae, angiophakomatosis retinae et cerebelli, familial cerebello-retinal angiomatosis, cerebelloretinal hemangioblastomatosis, Hippel Disease, Hippel-Lindau syndrome, HLS, Lindau disease or retinocerebellar angiomatosis.
Categories: Genetic disorders | Rare diseases | Hereditary cancers
|This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Von_Hippel-Lindau_disease". A list of authors is available in Wikipedia.|