All about hEDS

Disclaimer: Human Health is not recommending any specific medical treatment for any particular symptom, nor providing any other medical advice. Always seek the advice of your doctor regarding any medical concern.

What is hEDS?

hEDS is short for Hypermobile Ehlers-Danlos syndrome. hEDS is a subtype of Ehlers-Danlos syndrome (EDS), a group of conditions that affect the connective tissues. Connective tissues provide structure and support to the body, and includes parts of the body such as skin, bones, joints, and blood vessels.

EDS is caused by changes to the genetic code, which make the connective tissues weaker. For people with hEDS, this most commonly manifests as a greater range of movement in their joints, which is why the condition is referred to as ‘hypermobile’ EDS.

Overview of hEDS – Quick facts

hEDS is the most common EDS, estimated to affect 1 in every 5,000–20,000 people.
hEDS is the only EDS without a known genetic cause.
hEDS can be passed down through families, or it can occur spontaneously.

What are the common symptoms of hEDS?

hEDS does not present the same in every individual. There are many symptoms, and not everyone experiences them in the same way, but there are some symptoms that are common between most people with hEDS.

Joint hypermobility

The characteristic manifestation of hEDS is increased mobility of the joints. This might look like:

Being ‘double-jointed’ – able to move the joints more freely than is typical. For example, being able to bend the thumb to touch the forearm.
Being able to touch the floor with flat hands, whilst keeping the knees straight.
Being able to contort the body into positions that most people can’t, due to limitations in typical joint movement.

These looser joints may also make clicking or popping sounds.

People with hypermobile joints may also dislocate their joints more easily than others, which means they may slip out of place with the application of little force.

Pain

Joint hypermobility can also lead to joint pain. People with hEDS may experience chronic joint pain, which can be debilitating.

Fatigue

People with hEDS may experience persistent feelings of mental and/or physical exhaustion. This could be related to experiencing chronic joint pain, poor sleep as a consequence of chronic pain, or other reasons.

The fatigue may be disabling and prevent them from being able to complete activities of daily living, such as working, exercising, or self-care tasks like cooking and showering.

Stretchy skin that bruises easily

People with hEDS may have hyperextensible skin, which means that it can stretch more than most people’s skin. Their skin may feel softer or more ‘velvety’ than usual, and may appear transparent (’see-through’).

Their skin may develop bruises, stretch-marks, or scars easily.

Hernias and prolapse

Connective tissue holds muscles together. With hEDS, the integrity of the connective tissue is compromised, which may lead to weakness in muscular structures. This means that people with hEDS are more prone to develop conditions where body parts that are held in place by muscle slip out of place.

A hernia is the displacement of internal organs through a weak spot in a muscle. An example of a hernia that may be found in people with hEDS is an abdominal hernia, where the intestines protrude through the abdominal muscles. This can cause pain and gastrointestinal problems.

A prolapse is when an internal organ becomes displaced so that it is protruding out of the body. This might occur in pelvic organs such as the vagina and rectum, which are usually held in place by the pelvic floor muscles.

Gastrointestinal, reproductive, and urinary problems

The intestines, bladder, and reproductive organs are muscular organs, which are held in place by connective tissue. As a result of compromise to the strength and function of connective tissues, people with hEDS may experience dysfunction of these organs.

For example, people with hEDS may have trouble with bladder or bowel control, because these functions are reliant on muscular structures called sphincters that are usually tightly contracted. With hEDS, these sphincters might not work as they typically would due to connective tissue problems.

They may also experience heartburn or acid reflux, because the junction between the stomach and the esophagus is also a sphincter, that can usually keep stomach acid out of the esophagus. A dysfunctional sphincter can allow stomach acid to flow back into the throat and cause pain.

People with hEDS may also experience painful or heavy menstrual periods.

How is hEDS diagnosed?

Because the genetic cause of hEDS has not yet been identified, there is no specific test that can be used to diagnose it. hEDS is diagnosed by a clinician based on the presence of signs and symptoms known to be associated with the condition.

There are 3 criteria required to make a diagnosis of hEDS.

Generalized joint hypermobility

Assessed using a series of questions that ask about the patient’s history of joint hypermobility, as well as a physical examination of the joints.

Associated features

Assesses the presence of symptoms other than joint hypermobility, such as skin hyperextensibility, scarring, abdominal hernias, joint pain, and joint instability (e.g., dislocations).

Also included in this criterion is a family history of hEDS.

Exclusion of other diagnoses

To make a diagnosis of hEDS, other types of EDS must be excluded, as well as other types of connective tissue and joint diseases.

The full criteria are available here.

What are the different treatments available for hEDS?

hEDS has no current cure, but there are treatments clinicians may recommend to manage the symptoms and complications of hEDS. These may include:

Physical therapy to strengthen muscles and joints
Braces for unstable joints
Medications to alleviate pain
Mental health care

What support and resources are available?

The Ehlers-Danlos Society has a variety of groups you can join online for support, or you can use their database to search for in-person groups.

There’s also a moderated EDS Facebook support group with over 35,000 members.

Where can I find the latest information on clinical trials for hEDS?

ClinicalTrials.gov is a U.S. database that holds records for past, current, and future clinical trials worldwide. You can use the database to search for hEDS clinical trials.

The Ehlers-Danlos Society has a global clinical trials registry that people with hEDS can join, to be notified of upcoming clinical trials that may be enrolling participants.