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Ehlers-Danlos Syndrome, Vascular (Type 4)

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Overview

What is Ehlers-Danlos Syndrome, Vascular Type?
Ehlers-Danlos Syndrome (EDS) is a rare genetic disease caused by damage to a protein called collagen. Collagen is the main protein in connective tissues that supports skin, bones, blood vessels and other tissue and organs - all of which can be damaged in EDS. There are a number of different types of EDS, and the vascular type (vEDS) is often thought to be the most severe. People with vascular EDS often have thin, translucent skin, are more likely to have clubfoot, and can have fragile arteries, organs, and muscles. Women with vascular EDS often have fragile uterus (womb). People with vEDS also bruise easily and often have noticeably flexible joints.

VEDS is caused by changes in the COL3A1 gene. About half of people with vEDS inherit the change in COL3A1 from one of their parents. In the other half of people with vEDS, the syndrome is caused by a mutation in the COL3A1 gene from around the time of conception. Each child of a person with vEDS has a 50% chance of having the syndrome.

For about 60% of people with vEDS, the syndrome is diagnosed before they turn 18 years of age - this people are more likely to have a family history of the syndrome.

Treatments for vEDS focused relieving symptoms of the syndrome and on preventing more serious complications from happening. Even though vEDS is most often diagnosed in children, about a quarter of people with vEDS do not experience a major symptom by 20 years of age. However about 80% of people with vEDS experience a major symptom by 40 years of age.

People with a genetic change linked to vEDS are recommended to have more regular health checks, such as more blood pressure monitoring. This allows for earlier treatment to help reduce vascular stress and injury. Changes in the <i>COL3A1</i>gene are known to cause vascular Ehlers-Danlos Syndrome. Less than 1 in 10,000 people develop any form of EDS, and the prevalence of vascular EDS is about 1 in 50,000. However, for people with specific changes in the <i>COL3A1</i> gene, all will develop the condition. Image created by Iconarray.com. Risk Science Center and Center for Bioethics and Social Sciences in Medicine, University of Michigan. Accessed 2016-09-16.

What is the genetic test?
Genetic testing allows us to identify people at risk of developing vEDS. Changes in the COL3A1 gene are known to cause the condition, and genetic testing allows us to identify those most at risk. The American College of Medical Genetics recommends testing and returning results for COL3A1/vEDS. The genetic test can indicate if a person carries a genetic change associated with the disease, as well as other conditions discussed on this website.

How will this affect my health care?
When a person tests positive for a genetic risk of developing vEDS, it is recommended that they receive diagnosis and health management as soon as possible. Genetic testing can be offered to family members as well. Consulting with a clinical geneticist or genetic counselor can help with health care decisions. In addition, testing for symptoms associated with vEDS is recommended - this should involve the following:

  • History: A medical professional should take a personal and family history, focusing in particular on vascular problems and connective tissue.
  • Screening assessments: Arterial screening is used to monitor arteries, which are the vessels that carry blood from the heart. To do this, your doctor may use ultrasound examination, magnetic resonance angiogram or computed tomography angiogram. These are discussed further in Treatment.
  • Blood pressure monitoring: Blood pressure should be monitored regularly - this will allow for high blood pressure (hypertension).
  • Pregnancy management: Counseling is important and pregnant women should be monitored more closely for health concerns.
  • Sports: Certain sports should be avoiding, especially those with a higher risk of trauma - collision sports, weight lifting, etc.
  • MedicAlert® bracelet: These should be worn at all times.

Who is at risk?
Ehlers-Danlos Syndrome is very rare, and affects less than 1 in 10,000 people. Vascular EDS is even rare - and affect about 1 in 50,000 people. However, if a person has a relative with Ehler-Danlos Syndrome, they are at a much greater risk of developing the condition. The Genetic Test section looks at inheritance of the disease in greater detail.

Does my ancestry affect my risk?
There is no strong evidence to link vEDS with individuals of any particular ancestry.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Treatment

Treatments for vEDS focused relieving symptoms of the syndrome and on preventing more serious complications from happening.

What are the treatments for vEDS?
Treatments for vEDS are mainly focused on improving different symptoms of the syndrome and also on preventing more serious problems. About a quarter of people with vEDS do not experience a major problem by 20 years of age. However, by 40 years of age, about 80% of people with vEDS experience a major problem. Regular health checks are recommended to identify health problems as quickly as possible. Early identification can be a major help in managing vEDS-related problems, and family history can help identify other family members that may be at risk. The following are most relevant to people with vEDS:

  • Sudden, unexplained pain: People with vEDS should seek immediate medical care for sudden, unexplained pain - your doctor may need to take immediate action to manage problems, which may be related to damaged arteries, muscles, or internal organs.
  • Monitoring: Arterial screening is used to monitor arteries, which are the vessels that carry blood from the heart. To do this, your doctor may use ultrasound examination, magnetic resonance angiogram or computed tomography angiogram.These are all used to produce pictures of the inside of the body, including the heart and blood vessels. To make these images, ltrasound imaging uses sound waves, agnetic resonance angiogram uses a magnetic field and pulses of radio wave energy, and computed tomography (CT) angiogram uses X-rays.
  • Lifestyle: People with EDS should avoid lifestyle events that carry a risk of trauma. This includes avoiding collision sports and heavy lifting.
  • Avoiding arteriography: Arteriography is an imaging test that uses x-rays and dye to make images of arteries. It should be avoided wherever possible.
  • Family testing: A medical professional should take a personal and family history. Genetic testing should also be offered. About half of people with vEDS have a parent with the syndrome. Similarly each child of a person with vEDS has a 50% chance of having the syndrome. Other relatives are also be at risk, and a health professional can discuss these risks in detail.
  • Pregnancy: Counseling is important before and during pregnancy, and pregnant women with Ehlers-Danlos should be treated as high-risk patients.
  • MedicAlert® bracelet: These should be worn at all times.

Can treatments cause any problems?
Individual treatments for symptoms associated with vEDS may have their own risks, which are not discussed here. As above, arteriography - an imaging test that uses x-rays and dye to make images of arteries - should be avoided wherever possible.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Genetic Test

Why do a genetic test?
Genetic testing tells us who is most at risk of vEDS. Testing for certain genes is particularly important if they are considered to be 'medically actionable' - meaning test results can be used to improve health care. Testing for vEDS offers the chance of early health management.

In the embedded video, Dr. Dan Roden of Vanderbilt University discusses how genetic testing has begun to influence treatment of patients.

What is the test?
To do a genetic test, a medical professional will use your DNA to try to see if you have a change in the COL3A1 gene linked to vEDS.
Many of the people who use this website are patients in hospitals who are part of the eMERGE network. These hospitals are using DNA sequencing to test patients for a number of diseases, including vEDS, as recommended by the American College of Medical Genetics and eMERGE network members. Test results found to be medically ‘actionable’ (meaning they can be used to in patient health care) will be returned to patients.

I am concerned whether I should be tested or not, what should I do?
The decision to be tested might be one of the most important decisions you have to make. There are many things you may want to consider. For some people, genetic testing can have positive health benefits, while others may feel a lot of stress and worry. You can read more about these issues in the Concerns & Risks section. It may help to think about testing for a while before making a decision. You may also find it helpful to discuss issues with those close to you, or with your doctor/health professional.

What will the test result mean?
This test will tell your doctor whether you have a risk gene linked to vEDS. We also test for a number of other diseases, as recommended for testing by the American College of Medical Genetics and the eMERGE network. If you are found to be at risk, your doctor or genetic counselor should help you understand your health care options.

What happens if I am found to be at risk?
If you are found to be at risk for any of the diseases that we test for, a health professional at your local site will attempt to contact you as soon as possible. Once we contact you, your doctor or genetic counselor should help you understand your health care options. These may include include increased monitoring of your health, including:

  • A physical exam
  • Having regular health checks
  • Taking a detailed family history of related problems
  • Family members may also be tested for genetic risk
  • Several treatments may be recommended (see the Treatment tab above)

What happens if I am NOT found to be at risk?
If you are found NOT to be at risk for any of the diseases that we test for, you will likely NOT be contacted. However, a small number of patients may receive a medical report with results, while other patients may be re-contacted about another research study

If you have not been rec-contacted, please DO NOT ASSUME that you have been tested. There are a number of reasons testing may not have happened yet. For example, studies can sometimes take a very long time to complete, and DNA samples are often not usable because of quality-control issues.

How is the test being performed?
Testing is performed on your DNA, usually from a blood sample. For many patients, your hospital or treatment center may already have some of your DNA stored in a biobank. You may be asked for an additional sample or be asked to give us permission to do testing on the existing samples.

Will it hurt?
For some patients, we may need an additional blood sample. Taking blood may cause some pain, bleeding or bruising at the spot where the needle enters your body. Rarely, taking blood may cause fainting or infection.

Is it safe?
There is a risk that you may experience pain or bleeding if you need to give an additional blood sample. Risks concerning privacy are discussed under Concerns & Risks.

How long will I have to wait for results?
Unfortunately, we cannot give an accurate estimate for the time you will have to wait for results - this will depend on the resources available at the location where you receive treatment and were tested.

Is this a standard test?
Although increasingly more common, this test is not yet standard, and is typically offered as part of a research study.

What type of test is this?

  • Is this test intended to help make a diagnosis? Yes
  • Is this test intended to predict a family history of disease? Yes
  • Is this test intended to check if I am a carrier for a particular disease? Yes
  • Is this test intended to screen for genetic disorders? Yes
  • Is this test intended to screen for disorders related to pregnancy? No
  • Is this test intended to screen for disorders related to newborns? No

Will I need to have this test done more than once?
No, you should not need to have this test done more than once. You will need to keep track of your testing result in order to share with all of your doctors, including those you see at other medical care centers.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Family

Will my genetic test results affect my family?
Your genetic test results may affect your family. In the embedded video, Maureen Smith, a researcher at Northwestern University, recommends first discussing genetic test results with your doctor. Your doctor may refer you to a genetic counselor, who can help you understand test results and guide you toward brochures and websites that can provide information for both you and your family.

  • Before your genetic test: Because genetic information is inherited, it is important to be aware that your genetic test results are often relevant to your family members as well. Before you have a genetic test, it can be a good idea to think about if and how you would like to share results with your family. Your doctor or genetic counselor should be able to provide more information about this.
  • After your genetic test: For many of the diseases we test for, genetic test results may be relevant to your family members, as well as to you. If you already have results, it is again important to think about sharing them with family. Again, your doctor or genetic counselor should be able to offer advice on how genetic testing may affect your family members.

Can you (briefly) explain heritability?
We each have about 24,000 genes, which carry the instructions for making and maintaining our bodies. For each gene we typically have two copies – one inherited from each parent. If genetic test results suggest you are at risk of developing a heritable disease, you will most likely have inherited the risk from one or both your parents. Your brothers, sisters, children, parents, and other relatives may also be at risk of developing the same disease.

How is vEDS disease inherited?
VEDS is caused by changes in the COL3A1 gene. The COL3A1 gene provides instructions for making collagen, a protein that helps to build connective tissue. About half of people with vEDS inherit the change in COL3A1 from one of their parents. In the other half of people with vEDS, the syndrome is caused by a mutation in the COL3A1 gene from around the time of conception. Each child of a person with vEDS has a 50% chance of also developing the syndrome.
Please note that the Resources section provides links to a number of websites that provide a much more detailed explanation of inheritance! Learn.Genetics at the University of Utah have a much more detailed explanation, which we find quite good – you can check it out here.

My children are under 18 years of age – should they be tested?
The American College of Medical Genetics recommend testing children for most of the diseases listed on this website. Health management can be effective in children at risk of vEDS before they reach 18 years of age.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Concerns & Risks

What Should I Do If I Have Concerns About Genetic Test Results?
If you are concerned about genetic test results you have received, you should discuss your concerns with your doctor. Your doctor should be able to explain results to you, and may recommend you to a genetic counselor or another doctor that can further help you understand your results. Maureen Smith, a researcher at Northwestern University, discusses these concerns in the embedded video.

Is there a reason why I may be a specific risk?
For most of the disorders discussed on this site, the American College of Medical Genetics recommends genetic testing for individuals with available genetic data.

Are there any implications for having children?
Yes, please see the Family section

Can I expect to experience emotional consequences related to my test result?
A range of reactions are possible and normal. Some patients may experience anxiety or other negative reactions related to genetic testing and results. If this is the case, please discuss with your doctor, who can address your concerns and refer you another health professional if required.

Can I expect to experience social consequences related to my test result?
Some people may feel that there is a stigma attached to having a genetic disease. If you do experience or anticipate any negative social reactions, please discuss with your doctor who can address your concerns.

Can I expect to experience an increase in anxiety?
Many individual experience increased anxiety related to genetic testing. Again, please discuss with your doctor if this is the case.

Are there any implications in terms of discrimination arising from the test result?
Health insurance companies are prevented by law from discriminating against you based on your genetic test results. However, the same law does not apply to long-term disability insurance or to life insurance. Maureen Smith, a researcher at Northwestern University discussed these issues in the video on this page.

If I am found to be at increased risk for developing a disease, are there similar health implications for my family?
Yes, your results may have similar health implications for your family. Please see the Family section.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Sharing

Should I tell other health care providers about my test result?
We do recommend that you share this information with your health care providers. However, as explained by Maureen Smith, a researcher at Northwestern University, what you decide to do with your results is up to you.

Who will see my test results?
People who have access to your medical record will be able to see your genetic test result. This may include health professionals such as doctors, nurses, pharmacists, and genetic counselors. However, health professionals from other centers or hospitals will likely not have access to your results.

Should my other family members be tested?
If you are found to be at risk for a heritable genetic disease, your family may also be at risk. We discuss this further in the Family section.

Will this affect my health insurance?
No, your health insurance will not be affected by this test result. However, as discussed below by Maureen Smith, a researcher at Northwestern University, your life insurance and other areas of your life may be affected.

Who can I contact if they have any more questions?
You can contact your local center, where you received the test. The Resources section also includes a lot of websites that we recommend.

Is it there a risk to my privacy?
Research that uses information from medical records and that involves genetic testing can affect your privacy. Your participation in this research will be held strictly confidential, and only coded numbers will be used to identify specimens and research records. While it is impossible to absolutely guarantee that information in our secure system will never be known by others, we are taking every possible precaution to see that this does not happen.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Resources

We are compiling a list of websites to help you understand genetics and genetic test results. If you would like to suggest other resources for this section, please feel free to This email address is being protected from spambots. You need JavaScript enabled to view it.!
INFORMATION ABOUT EDS AND VEDS:

Weblink to Genetic and Rare Diseases Center (GARD) - vEDS ResourcesGenetic and Rare Diseases Center (GARD)
Supported by the NIH, this website has great resources for a huge range of genetic and rare diseases. The above link is to their vEDS disease resource. A link to the main GARD site is provided below as well.


Weblink to Genetics Home ReferenceGenetics Home Reference
Extensive resource about rare and genetic and genetic diseases. The above link leads to their familial EDS disease pages. A link to the main site is provided below as well.


Weblink to  EDS Network C.A.R.E.S. Foundation vEDS WebsiteEDS Network CARES Foundation resource
Dedicated vascular Ehlers-Danlos Syndrome resource for patients and healthcare professionals. Developed by the EDS Network C.A.R.E.S. Foundation.


Weblink to Mayo Clinic vEDSMayo Clinic - Disease and Conditions
Mayo Clinic maintains an extensive catalog of diseases and conditions. The above link leads to their section on Ehlers-Danlos Syndrome.


INFORMATION ABOUT GENETICS AND GENETIC TESTING:

Weblink to Genetics Home Reference Genetics Home Reference
Consumer-friendly information about the effects of genetic variations on human health. Federally-supported resources, include reviews of more than 800 genetic diseases and more than 1000 genes.


Weblink to Learning Resources from the NHGRILearning Resources from the NHGRI
Lots of very good resources from the NHGRI, including major sections about The Human Genome Project, Facts Sheets, and educational resources for teachers and students.


Weblink to National Society of Genetic CounselorsFind a Genetic Counselor
The National Society of Genetic Counselors have a searchable database of genetic counselors. Their website also includes some education materials for patients and healthcare professionals.


Weblink to NHGRI Talking GlossaryNHGRI Talking Glossary
Talking glossary of genetic terms developed by the National Human Genome Research Institute. A huge range of definitions is provided by researchers from around the world.


Weblink to Help Me Understand GeneticsHelp Me Understand Genetics
Help Me Understand Genetics is a handbook from the National Institutes of Health that contain useful information about genetics in clear language and provides links to even more online resources. The entire handbook can also be downloaded as a pdf.


Weblink to the Genetic and Rare Diseases Information CenterGenetic and Rare Diseases Information Center (GARD)
A joint project from The Office of Rare Diseases Research (ORDR) and the National Human Genome Research Institute (NHGRI) that provides searchable information about genetic conditions and rare diseases. It also includes a list of FDA-Approved drugs and other medical products for treating rare disease.


Weblink to NORDNational Organization for Rare Disorders - Resources for Parents/Families
The National Organization for Rare Disorders (NORD) is a volunteer organization dedicated to empowering the rare disease community. Again, they have some very nice web resources.


Weblink to ELSIEthical, Legal and Social Implications Research Program
The ELSI Research Program supports examinations and investigations of the ethical, legal and social implications of genetics research.


Weblink to GINAGenetic Information Nondiscrimination Act of 2008
The Genetic Information Nondiscrimination Act of 2008, also referred to as GINA, is a new federal law that protects Americans from being treated unfairly because of differences in their DNA that may affect their health.


Weblink to Learn.GeneticsLearn.Genetics, University of Utah
Excellent resources, especially for those involved in education. Includes a catalog of animations, videos, interactive features, and virtual labs.


Weblink to the Dolan DNA Learning CenterDolan DNA Leaning Center
The DNALC provides genetics learning resources for teachers and students.


INFORMATION FOR RESEARCHERS:

Weblink to the ClinVar ACMG recommendations pageClinVar: ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing
Clinvar's dedicated ACMG page - a useful jumping-off point to the Genetic Testing Registry, OMIM, MedGen, and local ClinVar pages for each gene.


Weblink to vEDS GeneReviews pageGeneReviews
Pepin, Murray, and H Byers. GeneReviews: Vascular Ehlers-Danlos Syndrome (updated November, 2015).


About

What is the purpose of this information?
Our aim is to provide information about why we do genetic testing. We try to answer some common questions and offer guidance on some personal and practical issues. This information is for anybody with questions about genetic testing for any of the diseases and drugs listed in this site.

Are there geographical differences in testing, service or treatment?
Different centers have different policies in terms of how tests are administered and results shared. However, the results discussed in this document should be relevant to most individuals tested for risk of developing genetic disease.

How is this paid for?
If you received this test as part of the eMERGE research study, neither you nor your insurance company will have to pay anything toward this test

When was this content last updated?
December 20, 2016.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.
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