Von-Hippel Lindau Disease

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 opthamologist is credited with discovering the familial nature of the disease, however Swedish pathologist Arvid Lindau was the one who …

…and is a tumor-suppressor gene. When both copies of the gene are idle due to mutation or loss, cell growth not supressed. Mutations could mean nucleotide substitution, or nucleotide insertions3. (See Fig. 4) VHL is an extremely rare disease in that there is not any common symptom or one common area of the body affected. Families with a history of VHL are encouraged to have frequent MRIs and opthamology examinations to prevent late detection of angiomas.