Understanding Ehlers-Danlos Syndrome (EDS): more than just “extra flexible joints”

 Introduction

Most people think being flexible is a good thing. You might even hear someone say they

are “double jointed”. However, for some people, this could be a sign of a rare genetic

condition called Ehlers-Danlos syndrome (EDS).

EDS is a group of inherited disorders that aHect the body’s connective tissue. This

connective tissue holds your body’s skin, joints, muscles, blood vessels and organs

together. One of the most important contents of such tissue is a protein, called

collagen. When collagen does not work properly, connective tissue becomes weaker

than it should be. Resulting in unstable joints, more fragile skin, and in some forms of

EDS, more delicate organs and blood vessels.



What causes EDS?

EDS is caused by mutations in genes that help make collagen or other proteins that help

support connective tissue.

Scientists have identified 13 diHerent types of EDS. Most are linked to specific gene

mutations that can be inherited from one or both parents. The most common form of

EDS is hypermobile EDS (hEDS), which is diHerent due to researchers still having been

unable to find the exact gene responsible.


Signs and Symptoms

EDS can aHect every individual diHerently. Some people only experience mild

symptoms, while others have severe complications that aHect their daily lives.

Common symptoms could be:

• Joints that can bend farther than normal

• Frequent spraints or joint dislocations

• Long-lasting muscle or joint pain

• Soft, stretchy skin

• Easy bruising

• Cuts that heal slowly and leave noticeable scars

• Extreme fatigue


Many people suHering from EDS also experiences problems that are not immediately

obvious, like headaches, stomach issues, dizziness when standing up, or problems with

their heart and blood vessels.

Due to there being symptoms that can seem unrelated, many people spend years going

undiagnosed.


How is EDS diagnosed?

Due to the before-mentioned variety in diHerent symptoms, which are often also seen in

other medical conditions, diagnosing EDS can be challenging.

Doctors would ask about a patient’s medical and family history, perform a physical

examination and a specialized test called the Beighton Score in which doctors measure

joint flexibility.

For most types of EDS, doctors can confirm the diagnosis with genetic testing, looking

specifically for changes in specific genes.


Can EDS be treated?

There is currently no cure for EDS. However, there are many treatments that can help

people manage their symptoms and live active lives.

Treatments could be:

• Physical therapy to strengthen muscles and protect joints

• Pain management

• Braces or support for unstable joints

• Regular exercise that is gentle on the joints (e.g. swimming)

• Monitoring of the heart and blood vessels in people with vascular EDS


Living with EDS and why awareness matters

Having to live with EDS can not only be physically challenging, but also mentally.

Many people experience pain every day, even when they have not injured themselves.

Activities that most people would find simple, can be diHicult, such as walking, writing,

carrying groceries or climbing stairs.

Patients often feel misunderstood or isolated, due to many people with EDS looking

healthy from the outside. Other people, such as friends, teachers, employers or even

healthcare professionals may not realize how much they are struggling.


Many people have never heard of Ehlers-Danlos syndrome.

Greater awareness can help doctors recognize symptoms earlier. This can reduce the

long delays that many patients experience before receiving a diagnosis.

Awareness encourages more research into treatments, hopefully one day leading to a

cure. Just as importantly, it helps friends, teachers, employers and family member

better understand the daily challenges faced by people living with EDS.


Conclusion

Ehlers-Danlos syndrome is more than just being a “little more flexible”. It is a group of

genetic disorders that can aHect almost every part of the body because connective

tissue is found everywhere.

Although there is currently no cure, advances in research are helping scientists better

understand the condition and improve patient care. Earlier diagnosis, research and a

wide-spread awareness can make a real diHerence for people living with EDS.


Sources

GeneReviews®. Hypermobile Ehlers-Danlos Syndrome. National Center for

Biotechnology Information, 2024.

Malfait, Fransiska, et al. “The 2017 International Classification of the Ehlers-Danlos

Syndromes.” American Journal of Medical Genetics Part C: Seminars in Medical

Genetics, vol. 175, no. 1, 2017, pp. 8–26.

Trudgian, Rachel, et al. “The Journey to Diagnosis for People with Ehlers-Danlos

Syndrome.” Orphanet Journal of Rare Diseases, 2024.

Xu, Kai, et al. “Shaping the Future of Care for Patients with Ehlers-Danlos Syndrome.”

Frontiers in Medicine, 2025.

National Organization for Rare Disorders (NORD). Ehlers-Danlos Syndromes.

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