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Von Hippel-Lindau syndrome is one of over 7000 known inherited diseases It is an autosomal dominant disease that affects about 10 of the population1 The history of VHL reaches back to 1864 when scattered reports of knots of blood vessels known as hemangioblastomas on the retina surfaced and were written up by opthamolagists Eugene Von Hippel a German opthamologist is credited with discovering the familial nature of the disease however Swedish pathologist Arvid Lindau was the one who suggested that these hemangioblastomas are part of a larger angiomatus involving knots of blood vessels lesion of the central nervous system Additional reports of affected small families confermed Lindaus theory In 1964 Melmon and Rosen summarized all knowlege of the disease and coined the name Von Hippel-Lindau The invention of ultrasound aided detection in the late 1970s and by the mid 1980s MRI was commonly used for detection of angiomas on the spine In 1993 the VHL gene was located by researchers at the National Cancer Institute Patients with VHL suffer tumors known as angiomas they are referred to as hemangioblastomas when discussing the retina brain or spinal chord and pheochromocytomas when discussing the adrenal glands consisting of tiny knots of blood vessels These angiomas can occur in the brain spinal cord retina adrenal glands kidney pancreas and very rarely in the epididymis is men and the fallopian tubes in women Based on these manifestations scientists have identified two types of VHL 1 without pheochromocytoma 2 with pheochromocytoma VHL type 2 has further been divided into two subcatagories 2a without pancreatic cysts 2b with pancreatic cysts VHL type 1 is the most common form of the disease Scientists have also identified trends in race associated with manifestations of VHL French families are most likely to have pancreatic cysts German families are most likely to have pheochromocytomas and Japanese families are more likely to have kidney tumors2 When hemangioblastomas form in the retina they start out very small
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