What Is Ehlers-Danlos Syndrome?

Ehlers-Danlos syndrome (EDS) is a genetic condition present at birth that involves problems with the body’s connective tissues. Connective tissues make up and support how the body is held together — the skin to the muscles, the muscles to bones, the blood vessels to surrounding tissue, and much more. Connective tissues are made of two proteins, collagen and elastin. In people with EDS, due to the genetic condition, the body isn’t able to produce collagen the way it should, which causes the connective tissue to be weaker than it should be. This leads to the most common signs and symptoms of EDS, hyperflexible joints and fragile skin that bruises and tears easily. “In this condition, the joints extend more than they’re supposed to; they move more than [the anatomic, correct way],” says Adam Brown, MD , rheumatologist and head of the EDS clinic at Cleveland Clinic in Ohio. “It’s not uncommon to have some degree of hypermobility, but people who have severe hypermobility could have issues,” Dr. Brown says. Trauma occurs when joints are repeatedly extended beyond their normal range, sometimes leading to early onset osteoarthritis, joint pain, and other chronic pain syndromes. While there’s no cure for Ehlers-Danlos syndrome, treatments and lifestyle changes can help manage symptoms and prevent complications.
Types of Ehlers-Danlos Syndrome Types Historically, Ehlers-Danlos syndrome was divided into six subtypes. The 2017 international classification of Ehlers-Danlos syndrome recognizes 13 subtypes, based on genetic mutations and also characteristic signs and symptoms.e60dc2a1-f33c-4a05-9b50-8e3e8e59762995da55f7-4d64-4021-b58b-a945dc922fb1 The three most common types of EDS are: Classical (cEDS) In this type, the skin is described as velvety or doughy and stretchy. Skin is fragile and easily injured and slow to heal; wide scars can form from past cuts or injuries. The joints are loose and flexible. Hypermobile (hEDS) The skin is soft, smooth, and mildly stretchy, but not usually fragile. Joints are loose and flexible (including the spine). Frequent dislocations (popping in and out of place) and chronic pain in the joints is common. Vascular (vEDS) The skin is thin and bruises easily. The large joints like the elbows and knees are usually normal, but small joints like the fingers and toes may be somewhat loose or flexible. Most important, the blood vessels throughout the body are more fragile than normal, raising the risk of internal bleeding and aneurysms . Vascular EDS may cause early death due to brain bleeds or large arterial bleeds. The remaining three of the original six types of EDS are less common than the types listed above: Kyphoscoliotic (kEDS) This type mainly affects the muscles and bones. People who have it often have a curved spine (called scoliosis) and weakness in their muscles and joints. Arthrochalasia (aEDS) This type affects the joints, making them unusually flexible and prone to dislocations. It can also cause stretchy skin. Dermatosparaxis (dEDS) This type mainly affects the skin, making it very fragile and prone to bruising, tearing, or injury. The skin can also be saggy and loose. There may be some amount of hypermobility. The other seven types of EDS, all of which are very rare, are: Brittle cornea syndrome (BCS) Cardiac-valvular (cvEDS) Classical-like (clEDS) Musculocontractural (mcEDS) Myopathic (mEDS) Periodontal (pEDS) Spondylodysplastic (spEDS)
Signs and Symptoms of Ehlers-Danlos Syndrome Symptoms The symptoms of EDS vary depending on the type, and symptoms can range from mild to severe. The most common symptoms include: Joint Hypermobility This is the hallmark, or key symptom for most types of EDS. Many joints can move beyond the normal range, which can lead to joint pain, dislocations, and early arthritis. The severity may decrease with age. Skin Hyperextensibility Skin in people with EDS stretches more than usual — for example on the neck or forearm — can cause bruising and abnormal scarring. The skin may also have a velvety texture or appear translucent in some types. Tissue Fragility People with EDS often experience difficulty healing wounds, leading to fragile skin that can tear easily and scars that are thin and wide. Pain Joint pain is common, and some people may develop chronic pain conditions like fibromyalgia . Skeletal Changes Some people with EDS may have issues like a sunken chest or a high-arched palate. Cardiovascular Issues Certain types of EDS can cause heart problems, such as mitral valve prolapse and issues with blood vessels, including artery dissection. Mitral valve prolapse is a condition where the mitral valve (located between the left atrium and left ventricle of the heart) does not close properly, which allows blood to flow backward into the left atrium. Bleeding Easy bruising, nosebleeds , and excessive bleeding after injuries or surgery are common. Fatigue Many people with EDS feel tired all the time. Digestive and Reproductive Issues Problems like irritable bowel syndrome and pelvic floor prolapse can occur in some types of EDS. Eye and Vision Issues Some people with EDS experience vision problems like myopia or retinal detachment . Foot Deformities Some types of EDS are associated with food problems such as clubfoot.
Causes and Risk Factors of Ehlers-Danlos Syndrome Causes Ehlers-Danlos syndrome (EDS) is caused by changes, or “variants,” in certain genes that affect the body’s connective tissues. These variants, also known as mutations, can happen during cell division, when the cells make copies of themselves. If part of the DNA sequence is in the wrong place, isn’t complete, or is damaged, it may lead to a genetic condition.e60dc2a1-f33c-4a05-9b50-8e3e8e59762923660b5b-1ee2-4cd2-b13a-a77391677738 In EDS, those mutations can affect the production or processing of collagen, a protein that gives structure and strength to tissues like skin, joints, and bones. Researchers have identified 20 different genetic mutations that can cause Ehlers-Danlos syndrome.e60dc2a1-f33c-4a05-9b50-8e3e8e597629112c10e9-3403-4707-a33a-bcd7a4e31fa7 Some types of EDS have genetic causes that are inherited and passed from parent to child. People with the most common type, hypermobile Ehlers-Danlos syndrome, have a 50 percent likelihood of passing the responsible gene variant on to their offspring.e60dc2a1-f33c-4a05-9b50-8e3e8e597629a6ca81b3-10ea-42e6-8ba4-932b57d555d4 Other types of EDS happen somatically, which means the genetic changes happen randomly after conception and can’t be passed from parent to child.e60dc2a1-f33c-4a05-9b50-8e3e8e597629112c10e9-3403-4707-a33a-bcd7a4e31fa7
How Is Ehlers-Danlos Syndrome Diagnosed? Diagnosis There can often be a delay in diagnosis, and part of that is because there’s a lack of awareness of the condition in both people with the condition and providers, says Brown. “Many people with hypermobility don’t even notice, especially if they are athletic and keep their muscles engaged. They may feel like they twist their joints more often, or they may injure themselves a little bit more often, but in general they do fairly well,” he says. But once those folks get older and are less active, people start having muscle atrophy, and they’re at higher risk for injury, says Brown. “They start having more pain, and that’s when they usually start seeking medical attention,” he says. Diagnosis will start with a detailed medical history. In addition to hypermobility and pain, other symptoms such as easy bruising, unusual scarring, or spontaneous organ ruptures, such as the gut or uterus, or problems with major blood vessels may indicate EDS. A physical exam for EDS includes: Skin The provider checks for abnormal, widened scars, bruising, and skin that stretches easily or appears translucent.e60dc2a1-f33c-4a05-9b50-8e3e8e597629983d6a6d-37e1-46fe-94cf-b6c6f818fab7 Joint Hypermobility This is measured using the Beighton scoring system, which involves bending the pinky fingers, thumbs, and spine, and observing the elbows knees for hyperextension. A higher score indicates more hypermobility.e60dc2a1-f33c-4a05-9b50-8e3e8e5976290df632e9-58c3-4248-b81a-af27479c8604 Other Bony Issues The provider looks for skeletal abnormalities, such as a sunken chest, which can be a sign of EDS, or features that suggest other conditions.e60dc2a1-f33c-4a05-9b50-8e3e8e5976292abbd214-334f-48a6-a612-14207c1a51a5 Genetic Testing There are tests that can check for the genes that cause most types of EDS. However, there isn’t a test for the most common type, hypermobility EDS.e60dc2a1-f33c-4a05-9b50-8e3e8e59762905570e6a-3131-40c7-8c0f-966ed821b5dc If symptoms suggest another type of EDS, genetic testing can be done to confirm the diagnosis. The testing involves sequencing a panel of genes associated with EDS and other connective tissue disorders and comparing the patient’s sequence to a reference, or “normal,” sequence.
Treatment and Medication Options for Ehlers-Danlos Syndrome Treatment There is no cure for Ehlers-Danlos syndrome, but treatment can help manage symptoms and reduce the likelihood of complications. Medication Options Classes of medications commonly used in the treatment of EDS include:e60dc2a1-f33c-4a05-9b50-8e3e8e5976296db19577-a26b-4c90-bcca-3d0184540d19 Pain Relievers Over-the-counter pain relievers such as acetaminophen (Tylenol and others), ibuprofen (Advil, Motrin IB, and others) and naproxen sodium (Aleve) are typically recommended to manage the pain caused by the microtrauma to the joints. Stronger or prescription pain relievers are only prescribed for acute injuries. Blood Pressure Medications Blood vessels are more fragile in some types of EDS, and antihypertensive medications can help reduce stress on the vessels. Physical Therapy Working with a physical therapist is important for people with most types of EDS. These exercise experts can teach you how to safely strengthen your muscles and joints while keeping joints in the correct alignment. The physical therapist may recommend knee braces, shoe inserts, or a cane can help support the joints and improve your ability to get around. Mental Health Living with Ehlers-Danlos syndrome can be stressful, especially if you have pain or fatigue. Research suggests that people with EDS are at a higher risk for mood disorders like depression and anxiety , as well as anorexia nervosa , addiction, and obsessive-compulsive disorder .e60dc2a1-f33c-4a05-9b50-8e3e8e5976299970c286-2982-4c8a-807c-72dab32c7b3e For people with EDS who are struggling with a mental health issue, psychotherapy is recommended. It may also help to join an online or in-person support group to connect with other people living with the condition. Surgery Surgery may be recommended to repair joints damaged by repeated dislocations or to repair ruptured areas in blood vessels and organs. This can be risky in some people with EDS because the wounds may not heal properly, and the stitches may tear through the fragile tissues.e60dc2a1-f33c-4a05-9b50-8e3e8e5976296db19577-a26b-4c90-bcca-3d0184540d19 Complementary Therapies There aren’t many scientific studies on complementary therapies and how they impact EDS. In a survey that asked people with hypermobile EDS what therapies they have tried, the most popular effective practices (ones that more than 10 people tried and more than half found helpful) included:e60dc2a1-f33c-4a05-9b50-8e3e8e5976293793df2a-998c-4805-ab57-5be858eb38cb Massage therapy (84 percent found helpful) Cannabis or CBD (80 percent found helpful) Aromatherapy (73 percent found helpful) Mindfulness (68 percent found helpful) Vitamins and other dietary supplements (56 percent found helpful)
Prevention of Ehlers-Danlos Syndrome Prevention There isn’t a way to prevent Ehlers-Danlos syndrome. A genetic counselor can help provide you with guidance if you’re concerned about passing EDS on to your children.e60dc2a1-f33c-4a05-9b50-8e3e8e597629c0faa8dd-d1d4-4572-aca7-18332c6d9f0a
Lifestyle Changes for Ehlers-Danlos Syndrome Lifestyle Changes One of the best things people with EDS can do is to work on improving their physical fitness, says Brown, starting with isometric , low-impact exercises. “People who are hypermobile are much more reliant on muscles than people without hypermobility, so staying active and keeping your muscles engaged is really critical,” he says. Work with a PT and listen to your body to slowly build up your endurance, says Brown. “Once you build up your endurance, you may be able to start doing some resistance training. I’ve seen people do dramatically better when they consistently do that and put on muscle. It seems to really help pain, it helps fatigue, it helps concentration,” he says. Injury prevention is important if you have Ehlers-Danlos. Recommendations include: Avoid contact sports. Most experts recommend choosing low-impact activities over contact sports to help you remain injury free during exercise. Lower-impact forms of exercise include walking, swimming, biking, or riding a stationary bike, and using a rowing machine. Rest your jaw. To protect the jaw joint, avoid chewing gum, hard rolls or bread, and ice. Wear supportive shoes. To help prevent rolling your ankle, wear laced boots with good arch support. Invest in your sleep. Body pillows and super-dense foam mattresses can help provide support and cushioning for joints.e60dc2a1-f33c-4a05-9b50-8e3e8e597629b09ea654-b12a-48b6-a19c-a38c0dbed262 Protect your skin. Using sunscreen and mild soap can help protect the skin.e60dc2a1-f33c-4a05-9b50-8e3e8e59762956b72780-be86-494a-911f-45d50de81cb0
What Is the Outlook for Someone With Ehlers-Danlos Syndrome? Prognosis and Outlook EDS is a lifelong condition with no cure. Most people are able to manage their symptoms and do the things they enjoy. Most types of Ehlers-Danlos syndrome don’t shorten life expectancy. The exceptions are vascular and kyphoscoliotic EDS. Life expectancy is significantly reduced in people with these subtypes because of the increased risk for a major vascular event such as stroke, or restrictive lung disease.e60dc2a1-f33c-4a05-9b50-8e3e8e597629c4152978-157e-42d4-8cfd-315e78618b92
Complications of Ehlers-Danlos Syndrome Complications Dislocations are the most common complication of EDS — that’s when bones in one of your joints are pushed out of their usual place. If you experience a dislocation, don’t try to push the joint back into place on your own. Seek medical attention right away. In some cases, you may need surgery to repair a dislocation. Other complications depend on the type of EDS you have. Complications can include: Problems with the valves that push blood through the heart Scoliosis, which is severe spine curvature Thin corneas (The cornea is the transparent, dome-shaped front layer of the eye that covers the iris and pupil.) Bowed limbs Teeth and gum problems Sleep apnea Some types of Ehlers-Danlos syndrome can cause life-threatening complications. Vascular Ehlers-Danlos syndrome can cause blood vessels to rupture, which can lead to internal bleeding and stroke. Vascular and dermatosparaxis EDS increase the risk of organ rupture; the most common types of organ rupture are intestines and a pregnant woman’s uterus.e60dc2a1-f33c-4a05-9b50-8e3e8e597629714f40bf-9912-440b-8c9a-4f80259f0559
Research and Statistics: How Many People Have Ehlers-Danlos Syndrome? Research and Statistics There’s limited data on how common EDS is, and sources differ in their estimates. The Ehlers-Danlos Society estimates that the prevalence of hypermobile EDS, the most common type, is 1 in 3,200 to 5,000; the prevalence of classical EDS is 1 in 20,000 to 40,000; and the prevalence of vascular EDS is 1 in 100,000 to 200,000. The prevalence of all other types is estimated at less than 1 in one million.e60dc2a1-f33c-4a05-9b50-8e3e8e597629003e79f0-b634-469f-98c3-35947f049d21
Conditions Related to Ehlers-Danlos Syndrome Related Conditions People with hypermobile EDS may have a higher risk of certain comorbidities, or co-occurring health conditions, in addition to EDS:e60dc2a1-f33c-4a05-9b50-8e3e8e5976290ed8a1e2-3786-4b58-a7d8-b240513a36c9 Anxiety Depression Irritable bowel syndrome Migraine Postural orthostatic tachycardia syndrome (POTS)
Ehlers-Danlos Support Support Connecting with other people who have EDS can help you feel more supported and less alone. Sharing your struggles and small victories may help you effectively manage your condition and improve your mental health as well. The Ehlers-Danlos Society offers free virtual support groups on a monthly and quarterly basis. Other ways to help you cope: Increase your knowledge. The more you know about EDS, the more in control you will feel. Find a healthcare team that is knowledgeable about Ehlers-Danlos to help you manage your symptoms. Tell others. Teaching other people about EDS will help build awareness and empathy.e60dc2a1-f33c-4a05-9b50-8e3e8e597629c14cfc3b-a67d-48e0-86f1-a699aecb9133
The Takeaway Ehlers-Danlos syndrome (EDS) is a genetic condition that affects the body’s connective tissues, leading to symptoms like joint hypermobility, fragile skin, and chronic pain. There are 13 subtypes of EDS, with the most common being hypermobile, classical, and vascular EDS. Each type has distinct characteristics and risks. While there is no cure for EDS, treatments such as physical therapy, pain management, and lifestyle adjustments can significantly help manage symptoms and improve quality of life. Some types of EDS can lead to severe complications, such as blood vessel rupture in vascular EDS. Regular medical checkups are crucial for managing risks associated with the condition.
Resources We Trust Cleveland Clinic: Ehlers-Danlos SyndromeThe Ehlers-Danlos Society: EDS & HSD CommunityMedlinePlus: Ehlers-Danlos SyndromeEhlers-Danlos Support UK: Exercise and Movement for Adults with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum DisordersEhlers-Danlos Syndrome Research Foundation: What Is Ehlers-Danlos Syndrome?

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