DNA Data Can Help You Understand Ehlers-Danlos Syndrome (EDS)

What Is Ehlers-Danlos Syndrome?

Ehlers-Danlos syndrome (EDS) is a genetic disorder that affects the connective tissue in your body. This connective tissue plays a major role in supporting skin, tendons, ligaments, blood vessels, internal organs, and bones.

Most commonly, EDS affects the joints, skin, and blood vessel walls, causing hypermobility in the joints and delicate skin that is overly elastic. Unfortunately, medical awareness of EDS is poor, so it frequently goes undiagnosed or diagnosis takes far too long. This leaves those with the condition frustrated, in pain, and uncertain about the cause of their physical ailments. Fortunately, genetic tests offer the opportunity to speed up EDS diagnosis.

How Is Ehlers-Danlos Syndrome Diagnosed?

Doctors traditionally diagnose Ehlers-Danlos syndrome through a physical examination. Exceedingly loose joints, and skin that is overly stretchy and fragile are indicators that you may have EDS. Other symptoms include easy bruising and frequent joint pain. These symptoms, coupled with a family history of the disease, can allow doctors to make a confident EDS diagnosis. However, you can have EDS even without a family history of the disease.

There are 13 types of EDS, so it’s vital to know which one you have to receive the proper treatment. Genetic testing can help confirm the diagnosis for many forms of the disease, although there is no available genetic testing for hypermobile EDS, the most common form.

While there is no cure for EDS, a diagnosis allows you to receive the correct treatment to manage associated pain and blood pressure issues, as well as to prevent related medical complications. Medications and physical therapy are the most common treatment options, though your doctor might recommend surgery in certain cases.

EDS is a genetic disorder caused by a change in a gene (also known as a variant). The risk of a child inheriting the disease ranges from 25 to 50 percent, depending on whether their parents have a dominant or recessive form of the genes that cause EDS. A person with recessive genes for EDS could be a carrier of the condition even if they don’t actually have the disease and could pass the genes onto their child. If both parents pass on recessive genes to their child, the child may then have the disease.

EDS has four broad classifications: Type I, II, III, and IV. Symptoms for each type vary, from joint hypermobility, joint pain, fragile and stretchy skin, and wide scars, to heart problems. Different gene mutations cause different types of the disease.

Classical-Type EDS (Types I and II) may affect 1 in 20,000-50,000 people. Symptoms include joint hypermobility, skin elasticity, and abnormal wound healing. In most cases this type is caused by variants in the COL5A1 or COL5A2 genes that influence collagen production.
Hypermobility-Type EDS (Type III) is the most common, affecting 1 in 10,000-15,000 people. Symptoms include bone difficulties such as hypermobile joints, scoliosis, and osteoarthritis, as well as fragile skin. Scientists have not been able to pin down the genetic causes of hypermobility EDS.
Vascular-Type EDS (Type IV) is rare, yet the most serious. Incidence is 1 in 100,000-250,000 people. Those with this type of EDS have serious bleeding from abnormal fragility of the blood vessels and the internal organs. Researchers believe that variants in the collagen gene COL3A1 are the cause.

So far, scientists have found EDS to be caused by variants in at least 20 genes. Further research should continue to reveal more about the disease and all genes related to its variations.

Testing for Hypermobile EDS

Hypermobile Ehlers Danlos Syndrome (hEDS) is the most common form of EDS and is milder than the others. Symptoms can include hypermobile joints, fragile skin, joint pain and clicking joints, scoliosis (where the spine curves sideways) and osteoarthritis (where joint cartilage wears down).

hEDS is regarded as a genetic condition, but the genes responsible for the disease have not been identified. Currently there is no genetic test for hEDS.

EDS is caused by gene variants. The more common types of EDS stem from variants in genes COL5A1, COL3A1, COL5A2, COL1A1, COL1A2, TNXB, ADAMTS2, PLOD1, and FKBP14. Rarer types of EDS result from variants in other genes.

What Our Comprehensive Rare Disease Test Can Tell You About EDS

The more you know about your disease, the better your treatment options. Genetic testing can provide specific information regarding what type of EDS you have.

Sequencing.com offers comprehensive rare disease genetic testing that may help to explain the root of your symptoms. You may find our testing especially valuable if you don’t have a known family history of the disease, as that can make a confident diagnosis more challenging.

Ehlers-Danlos screening will show if you have variants in genes known to be related to the disease. It’s important to be aware that researchers are still investigating EDS and constantly learning new things about the part different genetic variants play.

The genes that are currently associated with EDS may not be the only ones. This means that if your EDS screening does not show variants in the known EDS genes, you may still have EDS. As time goes on, researchers may pinpoint more genes associated with the disease.

How to Test for EDS

Our Ehlers-Danlos Syndrome Screening Bundle includes whole genome sequencing and is designed to help you make informed decisions about EDS.

Our tests are easy and quick. No blood collection is necessary, just a 1 minute mouth swab. We will use that sample to sequence your genome and provide you with a comprehensive analysis of your genes.

Once you receive the results of your test, we recommend that you have a discussion with your healthcare provider. As a team armed with information, you and your provider can find an effective treatment plan to manage your specific care.

About The Author

Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of Sequencing.com and the author of Outsmart Your Genes.

Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (⁠ACMG), an Associate of the American College of Preventive Medicine (⁠ACPM), and a member of the National Society of Genetic Counselors (⁠NSGC).