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.
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.
Research data from G. Pavesi and colleagues update understanding of Von Hippel Lindau disease epidemiology.(Report)
Mar 03, 2010; New research, 'Clinical and surgical features of lower brain stem hemangioblastomas in von Hippel-Lindau disease,' is the subject...
Study data from Dankook University, Department of Pathology update knowledge of Von Hippel Lindau disease therapy.(Report)
Mar 23, 2010; Research findings, 'Malignant glioma arising at the site of an excised cerebellar hemangioblastoma after irradiation in a von...