Von hippel-lindau syndrome

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At what age is von Hippel-Lindau syndrome diagnosed in people?

On average, von Hippel-Lindau (VHL) syndrome is diagnosed in the early to mid-twenties often around the age of 26. This is the time that signs and symptoms of the disorder usually become apparent in people. However, sometimes a diagnosis is made in early childhood or late adulthood. VHL syndrome does not follow a consistent pattern or path and can present very differently in people, including members of the same family.

References
  • Frantzen C, Klasson TD, Links TP, Giles RH. Von Hippel-Lindau syndrome. GeneReviews website. Accessed September 8, 2016. http://www.ncbi.nlm.nih.gov/books/NBK1463/
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Does von Hippel-Lindau syndrome cause high blood pressure?

What is the life expectancy of a person with von Hippel-Lindau syndrome?

Does von Hippel-Lindau syndrome cause hearing loss?

Where can caregivers of people with von Hippel-Lindau syndrome get support?

Will everyone with von Hippel-Lindau syndrome get renal cell carcinoma?

Can people with von Hippel-Lindau syndrome have children?

Does the type of gene change matter in von Hippel-Lindau syndrome?

Should children without symptoms be tested for von Hippel-Lindau syndrome if one of their parents has the disorder?

Is diet and nutrition important in von Hippel-Lindau syndrome?

Do people with von Hippel-Lindau syndrome need psychological support?

Will von Hippel-Lindau syndrome cause intellectual disability?

When do I tell my child that they have von Hippel-Lindau syndrome?

Does von Hippel-Lindau syndrome cause high blood pressure?

Von Hippel-Lindau (VHL) syndrome can, sometimes, cause high blood pressure (hypertension). One of the tumors that can develop in people with VHL syndrome is a pheochromocytoma. This tumor usually forms in the adrenal gland and can lead to the overproduction of hormones from the adrenal glands. This can lead to high blood pressure.

References
  • Von Hippel-Lindau syndrome. Genetics Home Reference website. Accessed September 8, 2016. https://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome
What is the life expectancy of a person with von Hippel-Lindau syndrome?

Von Hippel-Lindau (VHL) syndrome can be very different from one person to person. Accordingly, it is difficult to make predictions about how the disease will progress for a specific individual. Improved surveillance guidelines have increased the life expectancy of individuals with VHL by more than 16 years since 1990. Having said, this studies have found the average survival to be less than 50 years with one study in Great Britain in 2012 finding the average life expectancy to be 52.5 years. It is thought that the recurrence and number of tumors predict shorter life span. Having said this, this data includes older data before improved surveillance guidelines so the the average would probably much higher if based on data from 1990 forward.

References
  • Frantzen C, Klasson TD, Links TP, Giles RH. Von Hippel-Lindau syndrome. GeneReviews website. Accessed September 8, 2016. http://www.ncbi.nlm.nih.gov/books/NBK1463/
  • Wilding A, Ingham SL, Lalloo F, Clancy T, Huson SM, Moran A, Evans DG. Life expectancy in hereditary cancer predisposing diseases: an observational study. J Med Genet. 2012 Apr;49(4):264-9. doi: 10.1136/jmedgenet-2011-100562. Epub 2012 Feb 23.https://www.ncbi.nlm.nih.gov/pubmed/22362873
  • Evans, D. G., & Ingham, S. L. (2013). Reduced life expectancy seen in hereditary diseases which predispose to early-onset tumors. The application of clinical genetics, 6, 53-61. doi:10.2147/TACG.S35605https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3735038/
Does von Hippel-Lindau syndrome cause hearing loss?

Hearing loss can be a symptom of von Hippel-Lindau (VHL) syndrome. However, most people who have the disorder will not develop hearing loss. Some people with VHL syndrome develop a tumor or cyst in the endolymphatic sac, a tiny structure in the ear that helps to regulate the fluid levels in the ear. This can lead to hearing loss. Doctors estimate that only 10-16% of people with VHL syndrome will develop tumors or cysts in the endolymphatic sac.

References
  • Frantzen C, Klasson TD, Links TP, Giles RH. Von Hippel-Lindau syndrome. GeneReviews website. Accessed September 8, 2016. http://www.ncbi.nlm.nih.gov/books/NBK1463/
  • Von Hippel-Lindau Disease. The National Organization for Rare Disorders website. http://rarediseases.org/rare-diseases/von-hippel-lindau-disease/
Where can caregivers of people with von Hippel-Lindau syndrome get support?

Taking care of someone with a long-term or chronic condition can be tiring and challenging and this is no different for parents or other caregivers of people with von Hippel-Lindau (VHL) syndrome. If a caregiver is in need of support, explore the Caregiver Action Network. This organization works to improve the quality of life for people who care for loved ones with chronic conditions, disabilities, disease, or the frailties of old age. Support groups can also help provide support and advice for caregivers. Support groups for VHL syndrome include the VHL Alliance.

References
  • Caregiver Action Network website. http://caregiveraction.org/
Will everyone with von Hippel-Lindau syndrome get renal cell carcinoma?

About 70% of people with von Hippel-Lindau (VHL) syndrome develop renal cell carcinoma at some point during their lives. When caught and treated early, doctors can try and ensure that people retain kidney function throughout their lives. The VHL Alliance and the Kidney Cancer Association have more information on renal cell carcinoma.

References
  • Von Hippel-Lindau Disease. The National Organization for Rare Disorders website. http://rarediseases.org/rare-diseases/von-hippel-lindau-disease/
  • Frantzen C, Klasson TD, Links TP, Giles RH. Von Hippel-Lindau syndrome. GeneReviews website. Accessed September 8, 2016. http://www.ncbi.nlm.nih.gov/books/NBK1463/
Can people with von Hippel-Lindau syndrome have children?

Men and women with von Hippel-Lindau (VHL) syndrome can and do have children. Having said this, prior to having children it is best to consult a genetic counselor to fully understand recurrence risks and reproductive options before, during, and after pregnancy when one parent has VHL. In women living with VHL specifically, prior to pregnancy they should consult with a high risk obstetrician/gynecologist (ob/gyn) to discuss disease specific pregnancy risks. In 2019, there are not agreed upon medical recommendations for the care for women with VHL in pregnancy; however some specific risk factors can be addressed. Some studies suggest that there is an increased risk of certain hemangioblastomas in the brain growing larger during pregnancy. Women with pheochromocytomas who want to become pregnant should meet with appropriate medical team personnel as specific precautions should be taken. Often, pheochromocytomas are surgically removed in women who are considering becoming pregnant. Support groups such as the VHL Alliance can provide information on pregnancy in women with VHL syndrome and provide referrals to physicians who have experience with affected women and pregnancy.

References
  • Frantzen C, Klasson TD, Links TP, Giles RH. Von Hippel-Lindau syndrome. GeneReviews website. Accessed September 8, 2016. http://www.ncbi.nlm.nih.gov/books/NBK1463/
Does the type of gene change matter in von Hippel-Lindau syndrome?

Von Hippel-Lindau (VHL) syndrome is caused by pathogenic variants (disease causing changes) to the VHL gene. Nothing else and no other gene is known to cause the disorder. In genetic disorders, different changes in a gene are sometimes more likely to cause certain symptoms. This is called genotype-phenotype correlation. Certain alterations in the VHL gene are associated with a greater risk of developing pheochromocytomas. Other alterations are associated with a greater risk of developing renal cell carcinoma. Sometimes doctors refer to VHL type 1 and VHL type 2 to describe these different correlations.

References
  • Frantzen C, Klasson TD, Links TP, Giles RH. Von Hippel-Lindau syndrome. GeneReviews website. Accessed September 8, 2016. http://www.ncbi.nlm.nih.gov/books/NBK1463/
Should children without symptoms be tested for von Hippel-Lindau syndrome if one of their parents has the disorder?

Children who have a parent with von Hippel-Lindau (VHL) syndrome have a 50% chance of inherited the altered gene. Accordingly, some people may wonder about whether such children should undergo genetic testing. Many doctors caution that genetic testing should not be performed unless the child has developed symptoms. Testing a child who does not show symptoms, sometimes called presymptomatic testing, has drawbacks. There are many factors to consider before pursuing this option.

Families who have a parent with VHL syndrome should talk with a genetic counselor or a metabolic geneticist about what should be considered before agreeing to genetic testing for a presymptomatic child.

References
  • Nielsen SM, Rhodes L, Blanco I, et al. Von Hippel-Lindau disease: genetics and role of genetic counseling in a multiple neoplasia syndrome. J Clin Oncol. 2016;34(18):2172-81.
Is diet and nutrition important in von Hippel-Lindau syndrome?

Following a healthy diet and getting proper nutrition is important for everyone, including people with von Hippel-Lindau syndrome. People should make an effort to eat right and have a balanced, healthy diet. Individuals with VHL syndrome or parents of affected children should talk to their medical team about eating right and proper nutrition.

References
  • Health & Wellness. VHL Alliance website. https://vhl.org/patients/living-with-vhl/health-wellness/
Do people with von Hippel-Lindau syndrome need psychological support?

Von Hippel-Lindau (VHL) syndrome is a complex, serious disorder. Many individuals or family members experience emotional issues and distress. This is particular true when an individual or family has lost a family member to VHL syndrome. Some people struggle with the lifelong surveillance requirements. An evaluation by a psychiatrist or other mental health professional is recommended for anyone experiencing distress or other psychiatric symptoms. Talk to your or your child's doctor for a recommendation. Organizations like the National Alliance for Mental Illness (NAMI) or the National Institute of Mental Health can provide information and support as well.

References
  • Nielsen SM, Rhodes L, Blanco I, et al. Von Hippel-Lindau disease: genetics and role of genetic counseling in a multiple neoplasia syndrome. J Clin Oncol. 2016;34(18):2172-81.
  • Plon SE, Jonasch E. Clinical features, diagnosis, and management of von Hippel-Lindau disease. UpToDate, Inc website.
Will von Hippel-Lindau syndrome cause intellectual disability?

Von Hippel-Lindau syndrome does not cause intellectual disability.

References
  • Schmid S, Gillessen S, Binet I, et al. Management of von hippel-lindau disease: an interdisciplinary review. Oncol Res Treat. 2014;37(12):761-71.
When do I tell my child that they have von Hippel-Lindau syndrome?

One of the most difficult decisions for parents who have a child with von Hippel-Lindau syndrome is when to tell the child about their diagnosis. A child can be diagnosed through genetic testing, but not yet have any symptoms. Parents should discuss this question with a genetic counselor and a metabolic geneticist. They should also talk to their doctor and entire medical team about the best ways to communicate to their child and ensure that the child is informed and able to deal with the information.

To find a medical professional nearby who can discuss this, check out the listing of medical geneticists who can be found at the American College of Medical Geneticists website and genetic counselors who can be found on the National Society of Genetic Counselor's website.

References
  • Nielsen SM, Rhodes L, Blanco I, et al. Von Hippel-Lindau disease: genetics and role of genetic counseling in a multiple neoplasia syndrome. J Clin Oncol. 2016;34(18):2172-81.

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