Von Hippel-Lindau Syndrome Health Article

Definition

Von Hippel-Lindau (VHL) syndrome is an inherited condition characterized by tumors that arise in multiple locations in the body. Some of these tumors cause cancer and some do not. Many of the tumors seen in VHL are vascular, meaning that they have a rich supply of blood vessels.

Description

In the mid-1800s, ophthalmologists described vascular tumors in the retina, the light-sensitive layer that lines the interior of the eye. These tumors, called angiomas, were not cancerous but were associated with vision loss. In 1904, a German ophthalmologist named Eugen von Hippel noted that these retinal angiomas seemed to run in families. Twenty-three years later, Arvid Lindau, a Swedish pathologist, reported a connection between these retinal angiomas and similar tumors in the brain, called hemangioblastomas. Like angiomas, hemangioblastomas are vascular tumors as well. After Lindau noted this association, there were many more reports describing families in which there was an association of retinal angiomas and central nervous system (CNS) hemangioblastomas. Other findings were found to be common in these families as well. These findings included cysts and/or tumors in the kidney, pancreas, adrenal gland, and various other organs. In 1964, Melmon and Rosen wrote a review of the current knowledge of this condition and named the disorder von Hippel-Lindau disease. More recently, the tumors in the retina were determined to be identical to those in the CNS. They are now referred to as hemangioblastomas, rather than angiomas.

There are four distinct types of VHL, based on the manifestations of the disorder. Type 1 is characterized by all VHL-related tumors except those in the adrenal gland. Type 2 includes tumors of the adrenal gland and is subdivided into type 2A (without kidney tumors or cysts in the pancreas), type 2B (with kidney tumors and cysts in the pancreas), and type 2C (adrenal gland tumors only).