What is von Hippel-Lindau syndrome?
Von Hippel-Lindau syndrome (VHL) is a hereditary condition associated with hemangioblastomas (blood vessel tumors) of the brain, spinal cord, and eye. The eye tumors are also called retinal angiomas. People with VHL also have an increased risk of developing clear cell renal cell carcinoma, a specific type of kidney cancer, and pheochromocytoma, a tumor of the adrenal gland. Kidney cysts, pancreatic cysts, epididymal cystadenomas (tumors near a man's testicles), and endolymphatic sac tumors (tumors of the ear, which may cause hearing loss) are also features of VHL.
What causes VHL?
VHL is a genetic condition. This means that the cancer risk and other features of VHL can be passed from generation to generation in a family. The gene associated with VHL is also called VHL. A mutation (alteration) in the VHL gene gives a person and increased risk of developing kidney cancer and other symptoms of VHL. Nearly everyone who has VHL syndrome has a mutation in the VHL gene.
How is VHL inherited?
Normally, every cell has two copies of each gene: one inherited from the mother and one inherited from the father. VHL follows an autosomal dominant inheritance pattern, in which a mutation happens in only one copy of the gene. This means that a parent with a gene mutation may pass along a copy of their normal gene or a copy of the gene with the mutation. Therefore, a child who has a parent with a mutation has a 50% chance of inheriting that mutation. A brother, sister, or parent of a person who has a mutation also has a 50% chance of having the same mutation.
How common is VHL?
It is estimated that about one in 30,000 people has VHL. About 20% of people with VHL do not have any family history of the condition. They have a de novo (new) mutation in the VHL gene.
How is VHL diagnosed?
VHL is suspected when a person has:
- Multiple hemangioblastomas of the brain, spinal cord, or eye, or
- One hemangioblastoma and kidney cysts, pancreatic cysts, pheochromocytoma, or kidney cancer
If a person has a family history of VHL, he or she is are suspected of also having VHL if the person has any one symptom, such as hemangioblastoma, kidney or pancreatic cysts, pheochromocytoma, or kidney cancer. Genetic testing for mutations in the VHL gene is available for people suspected to have VHL. Nearly all people with VHL will be found to have the genetic mutation once tested.
What are the estimated cancer risks associated with VHL?
The risk of kidney cancer in families with VHL is estimated to be about 40%.
What are the screening options for VHL?
It is important to discuss with your doctor the following screening options, as each individual is different:
- Yearly eye examination to look for retinal tumors, beginning around age 2
- Yearly physical examination
- Yearly 24-hour urine test to screen for elevated catecholamines, beginning around age 2
- Yearly abdominal ultrasound (which uses sound waves to create a picture of the internal organs) to look at the kidneys, pancreas, and adrenal glands beginning in the teenage years; change screening to abdominal computed tomography (CT or CAT) scan in adulthood
- Magnetic resonance imaging (MRI) of the brain and spine every two years beginning in the teenage years
(For more detailed screening recommendations by age group, see the National Cancer Institute screening protocol for VHL at www.vhl.org/meetings/meet98/efglen.htm.)
Screening options may change over time as new technologies are developed and more is learned about VHL. It is important to talk with your doctor about appropriate screening tests. To learn more about what to expect during common diagnostic tests, read Tests and Procedures.
Questions to ask the doctor
If you are concerned about your risk for kidney cancer, talk with your doctor. Consider asking the following questions of your doctor:
- What is my risk of developing kidney cancer?
- What can I do to reduce my risk of cancer?
- What are my options for cancer screening?
If you are concerned about your family history and think your family may have VHL, consider asking the following questions:
- Does my family history increase my risk of developing kidney cancer?
- Should I meet with a genetic counselor?
- Should I consider genetic testing?
Additional resources
Guide to Kidney Cancer
The Genetics of Kidney Cancer
What to Expect When You Meet With a Genetic Counselor
VHL Family Alliance
www.vhl.org
National Cancer Institute
www.cancer.gov
American Cancer Society
www.cancer.org
CancerCare
www.cancercare.org
To find a genetic counselor in your area, ask your doctor or visit the following websites:
National Society of Genetic Counselors
www.nsgc.org
National Cancer Institute: Cancer Genetics Services Directory
www.cancer.gov/search/geneticsservices
