What to Know About Ehlers-Danlos Syndrome, According to MDs

This informational guide, part of PS's Condition Center, lays out the realities of this health concern: what it is, what it can look like, and strategies that medical experts say are proven to help. You should always consult your doctor regarding matters pertaining to your health and before starting any course of medical treatment.

Ehlers-Danlos syndrome (EDS) is a genetic condition that makes the connective tissue in your body much weaker and more fragile than it should be, per the Cleveland Clinic. The condition is rare, but experts categorize EDS into 13 different types, each with its own genetic cause and set of symptoms, mostly involving increased joint mobility and skin abnormalities, David Clarke, MD, tells PS.

Unfortunately, there is no cure for EDS, but certain treatment options can help ease pain, manage symptoms, and prevent further complications. Ahead, three doctors outline everything you need to know about EDS, including the symptoms, causes, diagnosis, and treatment.

David Clarke, MD, is a double-board certified internal medicine physician and gastroenterologist and president of the Association for Treatment of Neuroplastic Symptoms.

Christopher Hollingsworth, MD, is a board-certified general surgeon.

Brett Shore, MD, is a board-certified orthopedic surgeon at DISC Sports and Spine Center.

"Ehlers-Danlos syndrome is a group of inherited genetic disorders that affect connective tissues in the body, and these disorders are characterized by defects in collagen formation and function," Dr. Clarke says. "Collagen is a fibrous protein that provides structure, strength, and support to many parts of the body, and consequently, the defects in collagen can impact various organ systems and lead to a wide range of symptoms and complications." According to the 2017 EDS International Classification system, there are currently 13 types of EDS, each with its own genetic cause and set of clinical criteria. Celebrities like Jameela Jamil and Gigi Robinson have both been open about their unique experiences with EDS.

The disorder presents in a variety of forms, but all share similar features and involve weakened, fragile, hyper-elastic tissues that can affect the heart, joints, blood vessels, skin, eyes, teeth, and muscles, says Christopher Hollingsworth, MD. "Ehlers-Danlos syndrome is a rare disorder that affects 0.02 percent of the population, though it runs in families that carry the gene," he explains. It seems to affect all races equally, impacting at least one in 5,000 people worldwide, although studies suggest EDS may be more common in women, Dr. Clarke adds.

Symptoms of EDS can run the gamut from person to person, per Dr. Clarke, but often include:

EDS is caused by genetic mutations that affect the body's ability to produce and process collagen, which is a fibrous protein that provides structure and support to your skin, muscles, bones, tendons, ligaments, cartilage, blood vessels, and organs, says Brett Shore, MD. "Some of the most commonly involved genes include COL5A1, COL5A2, COL1A1, as well as variants in the TNXB gene, but most of these genetic mutations are inherited in an autosomal dominant fashion, meaning it only takes one parent with the condition to pass it on to offspring, which will happen 50 percent of the time."

Ehlers-Danlos syndrome is typically diagnosed with a complete family and medical history (including history of joint pain, joint dislocations, wound healing problems, etc.) and a physical exam in which the doctor will assess joint hypermobility and skin abnormalities, Dr. Shore says. The Beighton Scoring System, which is a clinical system to measure joint mobility on a nine-point scale, is also typically used during diagnosis, he says.

The exact presentation of EDS can vary, but the 2017 EDS International Classification outlines criteria for each of the 13 types of the condition, which helps narrow down a specific diagnosis, Dr. Clarke says. For example, a classical Ehlers-Danlos syndrome diagnosis consists of increased skin extensibility and scarring, a generalized increase in joint mobility, and a positive family history of the condition.

Genetic blood testing can also identify known genetic variants in those suspected of having EDS, Dr. Shore explains. However, many patients have unknown genetic mutations, which is why a complete medical history and physical exam are critical to diagnosis, he says.

Additionally, an X-ray, CT scan, MRI scan, echocardiogram, and/or lung function test may be necessary to evaluate organ functioning, Dr. Clarke says. A skin sample is sometimes also taken to examine collagen structure under a microscope, he adds.

There is no cure for EDS, but treatment can help manage symptoms and prevent further complications, Dr. Hollingsworth says.

Medications like NSAIDs (such as aspirin and ibuprofen) can be used for pain management, and antihypertensive medication (used to treat high blood pressure) may be recommended to protect fragile blood vessels, Dr. Shore says. Physical therapy and strength exercises can also help support hypermobile joints and improve joint stability, though if joint dislocation becomes severe or persistent, a brace may be required to prevent further dislocation, he says.

In some cases, joint replacement surgery may be necessary if someone experiences arthritis or frequent dislocations, Dr. Hollingsworth says. Cardiac and/or vascular surgery can also address valvular abnormalities and aneurysm if they present, he adds.

If you suspect you have EDS, talk to your doctor about evaluation and management, Dr. Shore says. "Although there is no cure for Ehlers-Danlos syndrome, prompt diagnosis and initiation of treatment are critical to delay or prevent joint damage and other complications of the disease."

Andi Breitowich is a Chicago-based freelance writer and graduate from Emory University and Northwestern University's Medill School of Journalism. Her work has appeared in PS, Women's Health, Cosmopolitan, and elsewhere.