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Von Hippel Lindau Syndrome
Von Hippel-Lindau (VHL) syndrome is a rare genetic disorder that makes a person more likely to develop certain types of tumors. These tumors can be either non-cancerous (benign) or cancerous (malignant).
People with VHL may develop:
Brain, spinal cord, and retina tumors called hemangioblastomas. These blood vessel tumors are usually benign. They may cause health problems depending on their location.
Benign tumors of the inner ear called endolymphatic sac tumors (ELSTs). These tumors can cause hearing loss.
Kidney cysts or kidney cancer
Pancreatic cysts or pancreatic cancer
Adrenal gland tumors known as pheochromocytomas. The adrenal glands are located on top of each kidney. They produce important hormones.
Genital tract tumors called papillary cystadenomas
VHL may be inherited. It can be passed from parents to their children. How severe the condition and which body areas are affected are different for each person. This is true even within the same family.
Cancer risk with von Hippel-Lindau syndrome
People with VHL are at a higher risk of developing tumors in areas that contain blood vessels. These include blood vessel tumors in the central nervous system, such as the brain and spinal cord. These can also include the retina and tumors in the inner ear. These tumors must be treated to prevent medical problems such as vision or hearing loss.
The age of tumor diagnosis varies widely. People are most often diagnosed between ages 12–35.
People with VHL are at a higher risk of developing other types of tumors. These tumor types include kidney cancer, adrenal gland tumors, pancreatic cancer, and other benign tumors. The most diagnosed cancer is kidney cancer, which occurs in about 40% of people with VHL. People with VHL may also develop cysts in the pancreas and kidney. The age of diagnosis among tumor types varies. The most common ages for diagnosis are between 12–50 years.
Treatment for these tumors may be similar to how patients without VHL would be treated for the same diagnosis. However, there are also medicines and surgeries that might benefit a person with VHL differently than someone with the same cancer without VHL.
Von Hippel-Lindau syndrome causes
Genes carry information telling cells within the body how to function. VHL syndrome is caused by changes in a gene known as VHL. This gene helps control how cells grow, divide, and die. It also regulates how blood vessels develop.
How von Hippel-Lindau syndrome is inherited
Most people without VHL carry 2 working copies of the VHL gene in their cells. One copy is from the mother. Another copy is from the father. Cells from people with VHL carry 1 working copy of VHL, and 1 copy that is changed. A gene change that causes disease is called a mutation.
Most children with VHL syndrome inherit the VHL gene mutation from a parent who also has the syndrome. About 1 in 5 (20%) people with VHL syndrome have a new VHL mutation that did not come from a parent. These children have no history of the syndrome in their family. In these cases, the change happened either in an egg or in one of the child’s cells during pregnancy.
No matter how they acquired the VHL mutation, people with VHL syndrome have a 1 in 2 (50%) chance of passing it on to their children.
Von Hippel-Lindau syndrome diagnosis
Health history
A health care provider may suspect that your child has VHL after studying their medical and family cancer history.
This information helps the health care provider and the genetic counselor know if:
- There are more cancers than normal in your family
- These cancers happened at a younger age than expected
- The cancers are those that are seen in von Hippel-Lindau syndrome
Your provider or genetics counselor may recommend genetic testing if they suspect VHL.
Learn more about genetic tests
Genetic testing for VHL
A blood sample is sent to a genetic testing lab. The lab runs genetic tests that looks for changes in the VHL gene.
If your child has a VHL mutation, the genetic counselor will work with your family to:
- Find out if other family members should consider testing for a VHL mutation
- Help your family understand the increased cancer risk from VHL
- Give you information to help with your decisions about prenatal genetic testing
Genetic testing before or during pregnancy
Parents may choose to do prenatal testing to find out if a pregnancy is affected with a known VHL mutation. Testing may take place either before pregnancy occurs or during pregnancy.
You should work with a genetic counselor to review the pros and cons of the test. The genetic counselor can also help you prepare for the test results.
Testing before pregnancy is called preimplantation genetic testing (PGT). This special type of genetic testing is done along with in vitro fertilization (IVF). PGT tests embryos for a known VHL mutation before a provider places the embryo into the uterus.
Testing during pregnancy can help providers see if a pregnancy has a known VHL mutation. A doctor gathers cells from the pregnancy in 1 of 2 ways:
- Chorionic villus sampling (CVS) is done during the first 3 months of pregnancy (1st trimester).
- Amniocentesis is done after the first 3 months of pregnancy (2nd trimester or later).
After tissue collection, the lab checks the sample for the VHL mutation.
Both tests carry minor risks. Discuss risks with an experienced health care provider or a genetic counselor.
Concerns for genetic testing
Take time to think carefully about the benefits and risks of genetic testing. Speak with a genetic counselor before testing. If you decide to get tested, talk with your health care provider or a genetic counselor about your results so you can understand what they mean.
Sometimes, children or adults with VHL feel sad, anxious, or angry after getting their test results. Parents may feel guilty if they pass the VHL gene mutation to 1 or more of their children. People with a VHL gene mutation may also have trouble getting disability or life insurance.
Monitoring and follow-up care for von Hippel-Lindau syndrome
In general, VHL care involves routine screening for tumors. Tumor screening checks for tumors before symptoms occur. While many of the tumors linked to VHL syndrome are not cancerous, they may cause serious problems, such as hearing loss or high blood pressure. The goal is to find tumors at the earliest and most treatable stage.
Discuss tumor screening tests with a health care provider who knows this syndrome well.
| Test | Age at first test | Frequency | Reason for screening |
|---|---|---|---|
| Complete Physical exam | Infancy | Yearly | Look for signs and symptoms related to VHL syndrome |
| Indirect ophthalmoscopy, a test to see inside the eye | Infancy | Yearly | Look for retinal hemangioblastomas. If present, increase screenings to every 6 months or as suggested by an ophthalmologist. |
| Blood pressure monitoring | 5 years | Yearly | Look for adrenal gland tumors |
| Blood tests | 5 years | Yearly | Look for adrenal gland tumors |
| Abdominal(belly) ultrasound | 8 years | Yearly until age 11, then every other year | Look for adrenal gland tumors and other tumors in the belly |
| Abdominal MRI with contrast | 11 years | Every other year | Look for adrenal gland tumors and other tumors in the belly |
| Brain and spine MRI with contrast | Puberty or 11 years, whichever is earlier | Every 2 years | Look for benign blood vessel tumors and papillary tumors |
| Hearing tests | 5 years | Every 2 years | Look for tumors in the ears |
Living with von Hippel-Lindau syndrome
Children with VHL are at risk of developing many types of tumors during their life. It is important to monitor their health and help them adopt healthy habits. They need to have regular physical checkups and screenings. That way, the care team can find cancer early and at the most treatable stage.
Problems to watch for
Watch closely for signs or symptoms that could signal cancer, such as:
- Aches, pains, lumps, or swelling that show up for no clear reason
- Headaches, vomiting, changes in vision, or changes in nerve function like numbness or tingling that does not go away
- Hearing loss, ringing in the ears, or dizziness
- Increases in blood pressure
- Pain in the abdomen (belly)
Maintain a healthy lifestyle
Habits that will help you maintain a healthy lifestyle include:
- Eat a healthy diet with lots of fruits and vegetables.
- Get regular exercise.
- Avoid smoking or using tobacco products.
- Avoid secondhand smoke.
- Avoid excess sun exposure. Always wear sunscreen, a hat, and protective clothing when out in the sun.
Von Hippel-Lindau syndrome care at St. Jude
The St. Jude Cancer Predisposition Program is dedicated to diagnosing and screening children with a genetic predisposition for cancer. Our program offers the best clinical care possible. We engage in cutting-edge research to gain more information about genetic disorders and cancer, and to improve the care and treatment for patients who are affected by these conditions. Learn more about the Division of Cancer Predisposition at St. Jude.
St. Jude stands out for many reasons, including:
St. Jude is the first and only VHL Alliance–recognized Clinical Care Center dedicated solely to children.
VHL patients take part in clinical trials that use the most advanced treatments available. Our goal is to treat every patient with the lowest number of side effects. Our clinical trials are based on years of experience and success. We have set the standard for VHL treatment, advancing cure rates, and improving the understanding of the disease.
VHL increases your child’s risk for many types of cancer.
Related clinical trials
St. Jude offers clinical trials and cancer research studies for children, teens, and young adults who have cancers associated with VHL. Learn more about clinical research at St. Jude.
Recruiting
Study goal:
To learn more about participants beliefs, attitudes, and questions about gene therapy to help make web-based resources to share information. This could help patients make treatment decisions.
Age:
18 to 35 years old with rare genetic diseases
Recruiting
Published results
Study goal:
The main goal of this study is to learn more about the reasons childhood tumors form and how to treat them better.
Recruiting
Study goal:
To provide a high-quality repository of tumor and normal samples to facilitate translational research performed by St Jude faculty and their collaborators
Recruiting
Study goal:
1) Test each patient for hundreds of gene variations that might be important for drug use. All of the gene test results will be in the research laboratory, but as time goes on, the study will evaluate scientific evidence and selectively move test results for a few genes into the medical record if the evidence strongly shows that the result can help in better prescribing of drugs for patients; 2) Estimate how often pharmacogenetic test results are moved from research tests into a patient’s medical record; 3) Use methods to choose which of these tests should be put in the medical record; 4) Use computer-based tools in the electronic medical record to help doctors use gene test results when prescribing drugs; 5) Share feelings and concerns of patients and their families about gene test information being put in their medical record.
Recruiting
Study goal:
The main purpose of this trial is to learn about the genetic causes of cancer.
Age:
Younger than 50 years old
Recruiting
Study goal:
To collect data about how Friedreich’s ataxia progresses over time and affects the daily life of patients.
Age:
Any
Recruiting
Study goal:
To find out how much patients with hemophilia B, their caregivers, and health care workers know about gene therapy for this disease, and how they feel about gene therapy. This will help us better educate patients and caregivers about gene therapy for hemophilia B.
Age:
12 years and older
Seeking treatment at St. Jude
Patients accepted to St. Jude must have a disease we treat and must be referred by a physician or other qualified medical professional. We accept most patients based on their ability to enroll in an open clinical trial.
Call: 1-888-226-4343 (toll-free) or 901-595-4055 (local) | Fax: 901-595-4011 | Email: referralinfo@stjude.org | 24-hour pager: 1-800-349-4334
Learn More
If you have questions about the Genetic Predisposition Clinic and care for VHL, email our team at GPTeam@stjude.org.