What is Von Hippel-Lindau Syndrome?

Von Hippel-Lindau (VHL) syndrome is a genetic condition in which individuals are born with a predisposition to develop a range of benign and malignant tumors. These include:

  • Renal cell carcinoma (a type of kidney cancer)
  • Tumors of the liver, pancreas and adrenal gland (pheochromocytomas)
  • Hemangioblastomas (brain and spine) and retinal angiomas
  • Endolymphatic sac tumors that may cause hearing loss
  • Epididymal and broad ligament cystadenomas

What are the causes?

Von Hippel-Lindau syndrome is caused by genetic changes in the VHL gene, which acts as a tumor suppressor. A tumor suppressor gene, when working properly, encodes proteins that prevent the growth and development of tumors in the human body.

The incidence of Von Hippel-Lindau is estimated to be 1 in 30,000.

How is Von Hippel-Lindau syndrome diagnosed

Von Hippel-Lindau syndrome can be diagnosed through genetic testing that is facilitated by a genetic counselor or genetics services provider.

Some families have had a diagnosis of VHL without any previous genetic testing, based on multiple hemangioblastomas and other tumor types that are associated with this syndrome.

Treatment and monitoring

Guidelines exist for the medical monitoring of children and adults with Von Hippel-Lindau.

These often include:

  • Annual lab work (e.g., plasma metanephrines)
  • Annual eye exams by an ophthalmologist familiar with this syndrome
  • Biannual brain, spine and abdominal MRIs
  • Blood pressure checks at all medical visits