What is Von Hippel-Lindau Syndrome (VHL)?
hearing with her eyes. Dr. House takes on the case and, of course, there is a myriad of misdiagnoses before House finally realizes the correct diagnosis: Von Hippel-Lindau Syndrome. So what is Von Hippel-Lindau Syndrome? Von Hippel-Lindau Syndrome (VHL), or Von Hippel-Lindau disease as it is sometimes called, is a rare genetic disorder. VHL was first discovered by German ophthalmologist Eugen von Hippel in 1904. The Swedish pathologist Arvid Lindau made further associations of VHL in 1926. VHL causes tumors and cysts to grow in various parts of the body. They most commonly grow in the brain and spinal cord, eyes, pancreas, and kidneys. However, they can occur in other parts of the body as well. The tumors can be either benign or cancerous. VHL is a genetic disease affecting approximately one in 32,000 individuals. Inheritance follows an autosomal dominant pattern. VHL occurs as a result of a mutation of the Von-Hippel tumor suppressor gene which is located on the third chromosome. When
