Von Hippel-Lindau Syndrome is a rare condition that makes a person more likely to develop certain types of tumors. These tumors can be either benign (non-cancerous) or malignant (cancerous).
People with von Hippel-Lindau Syndrome may develop the following:
- Central nervous system and retina tumors, called hemangioblastomas. These blood vessel tumors are usually benign, but they may cause health problems, depending on their location.
- Benign tumors of the inner ear, called endolymphatic sac tumors, which can cause hearing loss
- Kidney cysts or cancer
- Pancreatic cysts or cancer
- Adrenal gland tumors, known as pheochromocytomas. The adrenal glands are on top of each kidney, and they produce important hormones.
- Genital tract tumors, called papillary cystadenomas
Von Hippel-Lindau Syndrome is hereditary, which means it can be passed from parents to their children. The severity of the condition and which body areas are affected can vary from person to person, even within the same family.
Von Hippel-Lindau Syndrome is caused by changes in a gene known as VHL. Genes carry information telling cells in the body how to work. The VHL gene helps to control how cells grow, divide, and die. It also plays an important role in regulating how blood vessels develop.
Most people without von Hippel-Lindau Syndrome carry two working copies of the VHL gene in their cells. One copy is inherited from each parent. Cells from people with von Hippel-Lindau Syndrome carry one working copy of VHL and one copy that is changed. This change causes the gene to not work right. It is called a VHL variant.
Most children with von Hippel-Lindau Syndrome inherit the VHL gene variant from a parent who also has the syndrome. About 1 in 5 (or 20%) of people with von Hippel-Lindau Syndrome have a new VHL variant that did not come from a parent. These children have no history of the syndrome in their family. In these cases, the change either happened in an egg or sperm cell when the child was formed or in one of the child’s cells during pregnancy. These children are the first in their families to have von Hippel-Lindau Syndrome. No matter how they acquired the VHL variant, people with von Hippel-Lindau Syndrome have a 50% (or 1 in 2) chance of passing it on to their children.
As people with von Hippel-Lindau Syndrome get older, the remaining working copy of VHL often becomes changed in some of their cells. When both copies of the gene are changed, benign tumors or cancers can develop.
A doctor may suspect this diagnosis after looking at a person’s medical or family history. In most cases, a doctor or genetic counselor will ask questions about the person’s health and the health of other family members. Read more about genetic counseling and genetic testing.
Diagnosing this syndrome is usually done by sequencing the VHL gene to find variants (gene changes).
People with von Hippel-Lindau Syndrome are at a higher risk of developing unique tumors. These include hemangioblastomas in the central nervous system (brain, spinal cord) and retina (the back of the eye), as well as endolymphatic sac tumors in the inner ear. The age of diagnosis varies widely, but people are most commonly diagnosed between ages 12–35 years. Often, these tumors must be removed to prevent medical problems like vision or hearing loss.
People with von Hippel-Lindau Syndrome are also at higher risk of developing other tumor types. These tumor types include clear cell renal carcinoma (kidney cancer), pheochromocytomas, pancreatic cancer, and papillary cystadenomas. The most commonly diagnosed cancer is clear cell renal carcinoma, which occurs in about 40% of people with von Hippel-Lindau Syndrome. People may also develop cysts in the pancreas and kidney. The age of diagnosis among these tumor types varies. The most common ages for diagnosis are between 12–50 years.
Cancer screening involves tests to check for cancer before symptoms occur. The goal is to find cancer at the earliest and most treatable stage. Guidelines for cancer screening are available online. Recommended screenings may change over time as doctors learn more about this syndrome, so these screening tests should be discussed with a health care provider who knows this syndrome well.
Other ideas to reduce the risk of cancer include:
- Eat a healthful diet with lots of fruits and vegetables
- Get regular exercise
- Avoid smoking or using tobacco products
- Avoid secondhand smoke
- Avoid excess sun exposure and always wear sunscreen, hat, and protective clothing when out in the sun
- Get medical attention for unusual or ongoing symptoms
Because of the medical concerns related to this syndrome, specialists in the following areas may need to assess a child with von Hippel-Lindau Syndrome:
- Ophthalmology
- Audiology
- Neurosurgery
- Nephrology
Resources about von Hippel-Lindau Syndrome:
- Von Hippel-Lindau (VHL) Alliance (www.vhl.org)
- Genetics Home Reference (ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome)
Other resources:
- Making Sense of Your Genes: A Guide to Genetic Counseling (www.ncbi.nlm.nih.gov/books/NBK115508/)
Adapted from educational materials developed by the St. Jude Children’s Research Hospital Cancer Predisposition Program