Understanding Ehlers-Danlos Syndrome - Causes, Symptoms, and Treatment

First Posted: Jul 14, 2021 10:35 PM EDT
Understanding Ehlers-Danlos Syndrome - Causes, Symptoms, and Treatment

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According to research done by the National Library of Medicine, Ehlers-Danlos Syndrome is a condition that affects 1 in 5,000 people all over the world. The most common types of EDS are classic types and hypermobility. EDS refers to a hereditary condition that affects the connective tissues in the body. 

These tissues are in charge of structuring and supporting the organs, bones, blood vessels, and skin. They are made up of protein, collagen, fibrous material, and cells, and it is caused by a group of genetic disorders that cause a significant defect in collagen production. 

Each EDS type is different, affecting different parts of the body, but they all have one thing in common - hypermobility. Let's get deeper into the leading causes of EDS, its symptoms, and how to treat it.

The main causes of EDS

EDS is mostly considered a hereditary condition, even though rare cases are not hereditary. When it's not inherited, EDS can be caused by a spontaneous gene mutation. Defects in the genes tend to weaken the organism by causing irregularities during collagen formation. 

There are 13 main types of EDS:

  • Classic

  • Classic-like

  • Cardiac-valvular

  • Vascular

  • Hypermobile

  • Arthrochalasia

  • Dermatosparaxis

  • Kyphoscoliotic

  • Brittle cornea

  • Spondylodysplastic

  • Musculocontractural

  • Myopathic

  • Periodontal

The list of genes that can cause EDS includes but is not limited to:


  • COL1A1

  • COL1A2

  • COL3A1

  • COL5A1

  • COL6A2

  • PLOD1

  • TNXB

The symptoms of EDS

In some cases, parents can be silent carriers of the mutated genes that cause EDS while they themselves may not experience any symptoms. The common symptoms of classic EDS include:

  • Loose joints

  • Highly elastic and fragile skin that bruises easily

  • Skin patches on the eyes

  • Muscle fatigue and pain

  • Benign growths on knees, elbows, and other pressure areas

  • Heart valve problems

If it's hypermobile EDS, then symptoms may also include premature osteoarthritis, CRPS or chronic pain, and chronic degenerative joint disease. In the case of vascular EDS, a person may experience symptoms like a collapsed lung, sunken cheeks, thin lips, nose, and skin, and increased fragility of blood vessels. 

If it's hypermobile EDS, then symptoms may also include premature osteoarthritis, CRPS or chronic pain, and chronic degenerative joint disease. EDS alone can endanger your health, disturb your mental and physical balance, and contribute to decreasing the quality of your everyday life.

Diagnosing EDS

EDS can safely be diagnosed by doing a series of tests. They include an echocardiogram, a skin biopsy, and genetic tests. These tests can also help rule out other conditions with similar causes and symptoms. 

Out of the three, an echocardiogram is considered the most reliable testing method that utilizes sound waves to image the heart's movement and allow a specialist to ascertain if there are any irregularities present. A skin biopsy is used to confirm if there are any abnormalities in collagen production, while blood sample testing confirms mutations in specific genes.

Treating EDS

At the moment, the best options for treating EDS include physical therapy, using medications to reduce pain, and surgery to repair damaged joints. However, there are also additional options for treatment. Whether you'll get them or not depends on additional symptoms and the amount of pain you're experiencing. 

Physical therapy helps rehabilitate patients with muscle and joint instability. It is best to talk to a specialist before you decide to use any treatment as there are many potential complications associated with EDS.

These complications include:

  • Slow healing of surgical wounds and wounds in general, resulting in prominent and permanent scarring

  • Early-onset arthritis

  • Joint discoloration

  • Chronic joint pain

If you're considering an alternative treatment for EDS, there are special treatments for many conditions, including EDS and CRPS. According to the staff from the Spero Clinic, alternative treatments can really help deal with the symptoms of EDS: 

" The symptoms and pain levels experienced with this condition can vary greatly from person to person, ranging from mild to severe. Our treatment is focused on supporting the central nervous system and optimizing the body's ability to heal from within. This will allow the body to heal itself."

Steps to protect your joints and prevent injuries

If you manage to diagnose EDS early on and recover from it, you can take some steps to prevent further deterioration of your joints and protect yourself from harmful injuries. While physical activity is always an excellent way to improve your wellbeing and overall health, make sure you avoid contact sports and lifting weights. 

Protect your skin from harmful sun rays by using protective lotion and sunscreen. Don't use any harsh soaps or shampoos that may cause allergic reactions or overdry your skin. If you need to provide your joints with additional support, use assistive devices to minimize pressure.


If you're experiencing symptoms that might indicate you have EDS, it's paramount to seek medical and professional help right away. Talk to your doctor or a specialist and allow them to do the tests to diagnose you properly. 

Symptoms may indicate you're having EDS when you have a similar condition. If your diagnosis comes back positive, talk to your doctor to take some steps and develop an effective treatment plan.

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