Von Hippel-Lindau Syndrome

Von Hippel-Lindau syndrome (VHL) causes multiple tumors to form throughout the body, many of which are vascular. Although most of the tumors associated with VHL are non-cancerous, they can cause damage.

There is high risk for the following tumors:

Adrenal gland tumors (pheochromocytomas)
High blood pressure and otherwise unexplainable sweating and anxiety
Brain and spinal hemangioblastomas
Abnormal growth of blood vessels; symptoms include headaches, vomiting, dizziness, and irregular gait
Ear tumors (endolymphatic sac tumors)
May cause hearing loss
Kidney cancer
Clear cell type
Non-cancerous cystadenomas of the epididymis
Occurs in males
Pancreatic tumors and cysts
Generally do not cause symptoms unless they press on other organs
Retinal hemangioblastomas
Usually do not cause symptoms; small risk of vision loss

VHL is caused by mutations in the VHL gene. Our cancer genetic counselors can determine whether genetic testing for VHL is appropriate for you. Identification of a person’s VHL mutation is the first step in alleviating disease progression.

Most people with VHL also have a parent with VHL. Each child of a person with VHL has a 50 percent risk to also have VHL. Genetic testing can be used to determine which family members have VHL.