von Hippel-Lindau disease (VHL) is a rare genetic disorder where some blood vessels grow in an abnormal way and cause tumors in parts of the body that are rich in blood vessels.
Causes of VHL
VHL is caused by an abnormal change in a gene, which normally functions to produce a protein that acts as a suppressor of tumor growth. This gene mutation is passed on from parent to child and results in the uncontrolled growth of some tiny blood vessels known as capillaries.
Instead of growing normally, these blood vessels grow in a small knot. The knot forms a tumor called an angioma or a hemangioblastoma, most commonly in the eye and brain. VHL is also associated with other tumors, some of which are cancerous, as well as abnormal cysts throughout the body.
There is wide variation in the age at which VHL begins, the organs where problems occur and the types and severity of symptoms. These differences occur even among members of the same family.
Common symptoms include:
- Vision problems
- Difficulty walking
Your doctor may conduct a blood test that analyzes DNA to determine if you have the VHL gene. Not all families with VHL have an identifiable VHL mutation.
If members of your family are positive for the gene and you are not, you do not need any further testing. However, if other family members have been diagnosed with VHL despite a negative genetic test, or if you test positive for the VHL gene, you need to have regular medical exams and tests to uncover early signs. You should begin screenings in childhood and continue periodically throughout life, whether or not you have symptoms.
Screening for VHL complications includes a physical exam with special attention to your eyes and nervous system.
Your doctor may test your bodily fluids through blood or urine tests. Your doctor may also take images of your bodily structures. This can be done with:
- MRI scan
- CT scan
There is no known cure for VHL. Treatment depends on your symptoms, test results and general health.
Photocoagulation or cryocoagulation can treat retinal angiomas. You may require surgery to remove tumors if they are cancerous or causing other problems, such as preventing an organ from working properly. You must watch tumors for further growth.
If you have a family history of the disease or know you have the gene, you can reduce your risk of serious health problems by:
- Having regular screening tests to detect VHL complications early
- Watching carefully for any suspicious symptoms and getting treatment as soon as they occur
- Taking steps to reduce your risk of the cancers associated with VHL, which include:
- Eating a diet high in fruits and vegetables
- Not smoking
- Limiting consumption of alcohol
Content was created using EBSCO’s Health Library. Edits to original content made by Rector and Visitors of the University of Virginia. This information is not a substitute for professional medical advice.