Von Hippel Lindau Syndrome

How is genetic testing for von Hippel-Lindau syndrome done?

The health care provider may suspect von Hippel-Lindau syndrome after looking at a person’s medical or family history. In most cases, a health care provider or genetic counselor will ask questions about a person’s health and the health of other family members.

The genetic counselor or health care provider will record which family members have developed tumors, and if so, the types of tumors and ages at which these tumors occurred. From this information, they will create a family tree. Health care providers and genetic counselors will examine the family tree to find out:

• If there are more tumors than normal,
• Whether tumors occurred at younger than expected ages, or
• If the types of tumors match up with what might be observed in those with von Hippel-Lindau syndrome.

If von Hippel-Lindau syndrome is suspected in a child or other family members, the health care provider or genetic counselor will likely recommend genetic testing of the VHL gene.

Diagnostic genetic testing

If health care providers or genetic counselors suspect a person has von Hippel-Lindau syndrome, diagnostic testing may take place as follows:

• A blood sample is collected.
• DNA is isolated from the cells in the sample. A person’s genes are made of DNA.
• Both copies of the VHL gene are checked for possible changes. A genetic specialist compares the two copies of the patient’s VHL gene to a normal VHL gene. If there are differences, the specialist decides if they might be a cause of von Hippel-Lindau syndrome.
• If a VHL mutation is found, the genetic counselor will work with the family in the following ways:
  • To help the family understand the tumor risks related to von Hippel-Lindau syndrome
  • To find out if other family members should consider testing
  • To help with decisions about prenatal genetic testing

Prenatal genetic testing

Parents may undergo prenatal testing to find out if the pregnancy is affected with a known VHL mutation in the family. Testing may take place either before pregnancy occurs or during pregnancy.

People considering prenatal testing should work with a genetic counselor to review the pros and cons of the testing. The genetic counselor can also help parents consider how they wish to handle the results of the testing.

Testing that occurs before pregnancy — Testing that happens before pregnancy is called preimplantation genetic testing (PGT). This special type of genetic testing is done along with in vitro fertilization (IVF). PGT offers a way to test embryos for a known VHL mutation before placing them into the uterus.

Testing that occurs during pregnancy — Testing can be used to see if a pregnancy is affected with a known VHL mutation. A doctor gathers cells from the pregnancy in one of two ways:

• Chorionic villus sampling (CVS) — during the first trimester (first three months)
• Amniocentesis — during the second trimester or later (last six months)

Collected tissue can be checked for the presence of the VHL mutation identified in the family.

Both of these tests carry minor risks and should be discussed with an experienced doctor or genetic counselor.

Special concerns

Genetic testing for von Hippel-Lindau syndrome is a complex process. Those thinking about testing should take time to consider the benefits and risks. They should discuss the process with a genetic counselor before testing is done. If they choose testing, they should review the test results with the health care provider or genetic counselor to be sure they understand the meaning of the results.

Sometimes children or adults with von Hippel-Lindau syndrome can feel sad, anxious or angry. Parents who pass on a VHL mutation to one or more of their children can feel guilty. Some people with a VHL mutation could have trouble getting disability coverage, life insurance, or long-term care insurance in some states. More information about genetic discrimination can be found at www.ginahelp.org.

Are there other special health care needs for children with Von Hippel-Lindau syndrome?

Children with von Hippel-Lindau syndrome are at risk of developing multiple types of tumors during their lifetimes. They should monitor their health and adopt healthy habits throughout life. It is important to continue to have regular physical checkups and screenings. That way, any tumor can be found early at the most treatable stage.

People with this syndrome should watch closely for general signs or symptoms that could signal tumors:

• Aches, pains, lumps or swelling that cannot be explained
• Headaches, vomiting, changes in vision or nerve function that do not go away
• Hearing loss, ringing in the ears, or dizziness
• Increases in blood pressure
• Pain in the abdomen

Other ideas to reduce the risk of tumors include the following:

• Eat a healthydiet 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

Why Choose St. Jude for your child’s von Hippel-Lindau syndrome treatment?

• St. Jude is the first and only VHL Alliance-recognized Clinical Care Center dedicated solely to children.
• As of June 2019, our Cancer Predisposition clinic has identified almost 500 individuals from over 400 unique families with underlying cancer predisposition syndromes.
• The Cancer Predisposition Clinic is a collaborative investigative team working with faculty in the Solid Tumor, Neuro-Oncology, Survivorship, Leukemia, Lymphoma, Hematology and Computational Biology programs.

Last updated: 10/2020