CALL: Creve Coeur 314-227-9641Clayton 314-252-0924Gambrill Gardens 314-497-1443Chicago 773-381-3314

Everything You Need To Know About Ehlers-Danlos Syndrome

x-ray of Knee after surjery

What Is Ehlers-Danlos Syndrome?

Hypermobility syndrome, known as Ethers-Danlos Syndrome (EDS) in medical circles, is a connective tissue disorder that can affect the whole body. It predominantly affects joints but can also affect internal organs, including the heart.  When patients have EDS, their joints display hypermobility which has negative consequences on everyday life and results in frequent falls and severe pain.

What this means is that sufferers do not experience the end-of-range feeling that most of us feel at a joint and can, therefore, move their limbs and other areas with joints past a regular range of motion. If EDS does affect internal organs, such as the heart, it can be even more serious. For the purposes of this article, I would like to discuss only problems which affect the joints of the body. 

Common Symptoms of EDS

There are many signs to look out for when diagnosing EDS. Symptoms will include hypermobility of joints that cause pain and what some may perceive as a type of “clumsiness”. Specifically, sufferers will usually experience multiple joint pain at one time or chronic pain for an extended duration up to and beyond three months. Other symptoms include frequent dislocations of shoulder and knee joints, abdominal hernias, soft velvet-like skin that bruises easily and pelvic floor and pelvic joint issues.

Symptoms are often confusing and difficult to diagnose as they do not follow a specific pattern and MRI’s and other testing do not show anything until the problem is extremely advanced. Most patients have been to many MDs had multiple testing and multiple injections narcotic prescriptions, often Physical Therapy is a last resort.

What Problems Does EDS Cause?

Suffering from EDS causes many problems in everyday life. The abnormal collagen synthesis of EDS not only gives sufferers severe pain, but they may also find regular tasks troublesome due to a loss of stability and an increased chance of falling. People with EDS need to take more care in all tasks to ensure they do not cause themselves more pain by falling over.

What Treatments Are Available?

Sufferers can choose to seek out medicines to relieve them from pain and may even opt for surgery to repair joint damage. However, EDS can also be managed effectively by adopting a number of activities. They can devise an action plan that aims to strengthen their muscles around the joints starting with core muscle structures, without the risk to the joints and increasing pain.

A strategy to increase joint strength should avoid impact and weight-bearing activities. For example, sufferers should choose to go swimming or use elliptical machines where no or little impact is felt on their joints, rather than jogging. People with EDS will also benefit from taking up pilates over yoga for similar reasons. Small changes can also be made in everyday life such as wearing supportive footwear and using supportive furniture such as ergonomic office chairs.

How Common Is EDS?

EDS occurs in around one in 5,000-20,000 people across the world. More serious forms of EDS are even rarer and are referenced infrequently in medical literature. I believe that there are hundreds of thousands of patients that fall into the category of EDS/hypermobility syndrome who are undiagnosed.

Is EDS New?

EDS is nothing new and it is suggested to have been around for centuries. In fact, in 400BC Hippocrates pinpointed EDS as one of the earliest causes of bruising. Yet, it was not until 1901 when it was officially recognized by Edvard Ehlers and it was not until the 1960s until its genetic makeup was established. Since then, the understanding and available treatments of EDS have been slow to materialize. Thankfully, we are much more informed about the syndrome today and can provide sufferers with better advice and EDS management. 

Is It Genetic?

EDS can be passed down through family members and it can also occur through new gene mutations in people without a family history of EDS. Consequently, people can find out if they have EDS through genetic testing. However, many people choose not to use this method because of the prolonged waiting list and instead choose to look out for the aforementioned symptoms.

Background Information

EDS is the umbrella term that is given to multiple connective tissue disorders. Some people claim that there are 10 different forms of EDS while more recently others have proposed up to 13 types exist. In each type, there is a genetic defect in connective tissue structure and/or a defect in collagen at the joints. Research into the syndrome remains ongoing to provide sufferers with even better care and the ability to manage their symptoms more effectively.

RPI Patient Recovery Stories

At the heart of RPI, we’re focussed on helping people recover and get their lives back on track. While pain caused by EDS (and other muscular and joint-related issues) can take its toll, there is a path to recovery. Over the years, we’ve helped many people take back control and drastically improve their lives through physical therapy.

 

Here are two inspirational patient cases that we’ve encountered over the past 6 months.

 

1 – The pHD Student on the Road to Recovery

A 27-year-old man suffering with EDS had a 5 year history of not being able to sit down comfortably. The only positions that didn’t cause him pain were lying down or standing. This made studying for his phD incredibly difficult and frustrating, and made simple day-to-day activities a struggle.

After multiple visits to his doctor with complaints of severe pain in both his buttocks and radiating pain down one leg, believed to be as the result of joint hypermobility syndrome. This condition causes aches and pains between the joints, and makes the sufferer more likely to experience spasms. Nothing seemed to be helping with the agony, until finally, he was referred to a physical therapist.

The patient took part in a series of activities including dry needling, pelvis strengthening, wearing a brace, using orthotics in his shoes, and undertaking a special therapeutic exercise program to strengthen and re-train his body. Over time, this holistic approach developed his muscles so he could sit comfortably again, enabling him to complete his pHD and enter the world of work.

From once having to have his mother drive him to school every day, he could now drive himself to and from work, as well as walk and do other high impact activities that for years had been impossible. Thanks to physical therapy, he is now leading a normal and happy life.

2 – The Architect Who Took Back Her Life

A 30-year-old architect was suffering with agonizing back and groin pain, as well as radiating pain down her legs to the knee. After multiple meetings with pain management professionals, countless injections, MRI scans, and even surgery to explore her uterus and internal organs, she was still in a great deal of pain, and with seemingly all options exhausted. Being an architect, a lot of the daily activities she needed to do were seriously restricted.

 When it seemed like there was little that could be done for her, she decided to turn to therapy. After a quick evaluation, it became clear that she had multiple hypermobile joints, which causes severe pain and stiffness in the joints and makes movement difficult. She began physical therapy, having dry needling, stabilization/energy techniques, and using a custom-made brace. She was also taught special exercises to perform at her workplace to help build and strengthen muscles surrounding the affected joint.

 The architect has improved by a massive 60%, and the future is looking bright. She is now able to perform her work duties and daily activities and has taken back control of her body and her life. After another 2-3 months, she can expect to be discharged and will continue to see improvements in pain reduction and her mobility.

Healthy, happy patients are what makes it all worth it. If you’re suffering from debilitating pain or mobility problems, a course of physical therapy may be exactly what you need to get things back on track and start living your life to the fullest.

 

Living With EDS

Getting a diagnosis of EDS can feel like a breakthrough, however many patients are then dismayed to discover that there is limited support available for sufferers. Luckily, although EDS is unable to be cured, those who have this condition can learn how to control it themselves to live a full and active life.

 

Managing EDS on a day-to-day basis revolves around exercise, pacing and physiotherapy. If you have related conditions, you may also need a referral to neurology, podiatry, pain management or gastroenterology services.

 

Coping With The Common Symptoms Of EDS

There are a number of common symptoms of EDS which can be managed independently by sufferers.

 

Many suffer from fatigue due to nutritional deficiencies, muscle deconditioning, sleep disorders and chronic pain. Although there isn’t any specific medication available to alleviate tiredness in itself, there are drugs available for the problems which cause excessive fatigue. Meanwhile, good nutrition and physiotherapy can be highly beneficial.

 

EDS commonly causes chronic pain which may either be limited to a single body port or be widespread. Gastrointestinal problems and headaches may occur together with nerve, muscle and joint pain. Medication, use of braces and splints and physiotherapy can help in such cases.

 

The Role of Physiotherapy In Managing EDS

Activity, exercise, and physiotherapy all have a key role to play in managing EDS. However, finding a physiotherapist with the necessary skills and knowledge of the condition is vital to maximize your ability to self-manage the condition.