Von Hippel-Lindau Disease

Von hippel- lindau disease is a genetic disorder caused by VHL gene mutations. The mutations in this tumor suppressor gene result in visceral cysts and tumors in the body. Tumors can be either harmless or cancerous. However the symptoms of Von hippel- lindau disease last throughout the life. Sometimes these may lead to fatal complications as well. It is estimated that 1 out of 36000 newborns in the U.S. has von hippel- lindau disease. The disease is named after Eugene von Hippel and Arvid Lindau. It was Eugene von Hippel who described the retinal tumors in 1904, and in 1926 Arvid Lindau identified their association with other tumors. Those having von hippel- lindau disease are at high risk for kidney cancer.

What are the symptoms of von hippel- lindau disease?

There are mainly two types of tumors associated with von hippel- lindau disease- hemangioblastomas and pheochromocytomas. Hemangioblastomas are tumors of the central nervous system leading to headaches, vomiting, weakness, and ataxia (trouble with muscle coordination). These tumors develop either in the brain or in the spinal cord. pheochromocytomas are generally noncancerous tumors that develop in the adrenal glands. The tumors that occur in the back of the eye are called retinal angiomas. These can cause loss of vision.

How is von hippel- lindau disease diagnosed?

Von hippel- lindau disease is diagnosed based on the following manifestations:

  • Presence of hemangioblastomas in the CNS
  • Visceral cysts
  • Family history
  • Genetic testing to identify mutations in VHL gene

How is von hippel- lindau disease treated?

Photocoagulation and cryotherapy are the two main treatment options for von hippel- lindau disease.

Other treatment options for von hippel- lindau disease include:

  • Regular and life- long monitoring for tumors using genetic counseling/ testing and screening protocol
  • Screening options include yearly eye examination to check for retinal tumors, abdominal ultrasound/ CT/ CAT to identify tumors and cysts in the kidneys, pancreas and adrenal glands and magnetic resonance imaging (MRI) of the brain and the spine.
  • Share with the doctor your concern about the risk for developing kidney cancer.