Von Hippel-Lindau Syndrome
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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 population.1 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 ophthalmologist
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 knowledge
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 subcategories
: 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 and difficult to detect. They tend to grow around the equator of the retina (See Fig 1), far from the area of central vision. A very indepth opthamological examination is required to detect hemangioblastomastomas of the retina. Once discovered, there are two main 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 bit 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. The danger of these hemangioblastomas is the pressure they exert on brain tissue or nerves on the spine. This can result in blockage of spinal fluid. Surgery in these areas carries many risks since these areas are so delicate.
Perhaps the most dangerous of the manifestations of this rare disease are angiomas in the kidney, pancreas, and adrenal glands. Detected early, pheochromocytomas (or “pheos” for short) can be very easy to handle, but they can be lethal if not