What is Ehlers-Danlos Syndrome?

Rare diseases can be devastating and difficult to diagnose.

Ehlers-Danlos Syndrome (EDS) affects as many as one in 2,500 people, yet is often mistaken for other conditions. Here’s what people need to know about the disease.

What is Ehlers-Danlos Syndrome?

EDS is a connective tissue disorder that affects people’s joints, skin or blood vessel walls. It is caused by a defect in how the body processes collagen, which is an important part of keeping skin, joints, ligaments and blood vessels strong. According to the National Institutes of Health, EDS is classified in different ways, but most people with EDS share some common traits, such as fragile skin, easy bruising and overly flexible joints.

What are the symptoms and how is it diagnosed?

Symptoms are usually joint and skin-related, and can range from mild to fatal. People with EDS are often hyper-flexible. Their joints are loose and unstable because of the collagen defect and it can cause chronic joint pain or dislocation while doing common daily activities. They may also have fragile skin that bruises easily and is slow to heal. In the less common vascular type, the blood vessel walls are thin and fragile, which can cause arteries or organs to rupture.

EDS is commonly diagnosed by experienced rheumatologists by examining the symptoms or doing a skin biopsy, depending on the type suspected. Geneticists can confirm some types of EDS with a genetic test.

“Diagnosing diseases like Ehlers-Danlos Syndrome can be very difficult, due to the nature of the symptoms,” says Dr. Sunil John, rheumatologist on staff at Advocate South Suburban Hospital in Hazel Crest, Ill. “Joint pain in children and teens may be mistaken for developmentally normal ‘growing pains,’ and patients may not recognize hyper-flexibility as a serious problem until injury occurs. Sometimes finding the right diagnosis for a patient means thinking outside the box.”

Common misdiagnoses of EDS include fibromyalgia, Chronic Fatigue Syndrome, multiple sclerosis and lupus.

Who does it affect?

For most, EDS is a genetic disorder, meaning it is passed down through families. People with no history can also get it through random gene mutations.

According to the Ehlers-Danlos National Foundation, EDS affects somewhere between one in 2,500 and one in 5,000 people, though some researchers believe is it under diagnosed and may be more common. EDS affects people of both sexes and across racial and ethnic groups.

How do you treat it?

There is no cure for EDS and treatment depends on the type and the severity.

People with mild forms of EDS can often make simple accommodations in their daily lives, but many utilize physical therapy and various methods of pain control to keep symptoms from flaring. Some people may need surgery to repair damaged joints over time or in rare and severe cases, may need long-term care.

For those suffering from the vascular type, life expectancy can be shortened because of the risk of organ and artery rupture.

“Accepting a rare diagnosis can be difficult, but with the right care team, patients have a good chance at a normal quality of life,” says Dr. John. “Armed with knowledge and necessary accommodations, many people who suffer from chronic illnesses like EDS can remain healthy and active.”