Von Hippel-Lindau Syndrome :: essays research papers

     Von Hippel-Lindau syndrome is one of over 7000 known inherited diseases. It is an autosomal rife disease that affects about 10% of the population.1 The history of VHL reaches back to 1864 when scattered reports of knots of affinity 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 key 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 advanced 1970s, and by the mid 1980s, MRI was commonly used for detection of angiomas on t he 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 anaesthesia 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 boast determine two sheaths of VHL 1) without pheochromocytoma 2) with pheochromocytoma. VHL attribute 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, Germ an families are most likely to have pheochromocytomas, and Japanese families are more likely to have kidney tumors2.     When hemangioblastomas form in the retina, they mystify out very small and difficult to detect. They tend to grow about the equator of the retina (See Fig 1), far from the area of central vision. A very indepth opthamological interrogatory is required to detect hemangioblastomastomas of the retina. Once discovered, there are two of import options for treatment laser surgery or cryotherapy (freezing). The goal of these treatments is to keep the hemangioblastomas from growing.     Hemangioblastomas in the brain and spinal cord can be a oddball more dangerous. Early signs of a growth in these areas may include back pain, headaches, numbness, dizziness, and weakness or pain in the arms or legs.