Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome (EDS) is a group of inherited genetic disorders that affect the body's connective tissues, including the skin, joints, and blood vessel walls. These disorders impact collagen production and function, weakening the body's ability to support and maintain structural integrity. There are 13 recognized types of EDS, with hypermobile EDS (hEDS) being the most common.
EDS can significantly impact mobility, skin elasticity, and pain levels, often leading to joint instability and chronic discomfort. While there is no cure, effective management strategies can improve quality of life and minimize complications.
Types of Ehlers-Danlos Syndrome
EDS is classified into 13 subtypes, each with unique characteristics. Some of the most notable include:
Hypermobile EDS (hEDS) – The most common type, characterized by excessive joint flexibility and fragile skin.
Classical EDS (cEDS) – Involves severe skin hyperelasticity, easy bruising, and wound-healing difficulties.
Vascular EDS (vEDS) – A rare and life-threatening form affecting blood vessels and internal organs, increasing the risk of rupture.
Kyphoscoliotic EDS (kEDS) – Causes severe curvature of the spine (scoliosis) from birth and weak muscle tone.
Each type of EDS results from different genetic mutations, which alter the body's ability to produce functional connective tissue.
Common Symptoms of Ehlers-Danlos Syndrome
1. Hypermobile Joints
Joints can extend beyond the normal range of motion (hypermobility)
Frequent joint dislocations and subluxations (partial dislocations)
Chronic joint pain and clicking sounds
2. Skin Abnormalities
Excessively stretchy (hyperelastic) skin
Skin that is fragile, bruises easily, and heals poorly
Increased risk of scarring and slow wound healing
3. Chronic Pain & Fatigue
Persistent muscle and joint pain due to weak connective tissue
Fatigue and low energy levels, possibly linked to autonomic dysfunction
4. Digestive Issues
Irritable Bowel Syndrome (IBS)-like symptoms, including bloating, constipation, and reflux
Gastroparesis (delayed stomach emptying), leading to nausea and poor nutrient absorption
5. Autonomic Nervous System Dysfunction (Dysautonomia)
Dizziness, fainting, and heart palpitations due to blood pressure instability
Postural Orthostatic Tachycardia Syndrome (POTS) is common in people with EDS
Diagnosing Ehlers-Danlos Syndrome
There is no single test for hypermobile EDS (hEDS). Diagnosis is based on:
Detailed medical history to assess joint flexibility, skin elasticity, and symptom patterns.
Physical examination using the Beighton Score, a tool that evaluates joint hypermobility.
Genetic testing for some rare subtypes of EDS, such as vascular EDS.
EDS is often misdiagnosed or overlooked, as symptoms can overlap with other conditions such as fibromyalgia, arthritis, and lupus.
Managing Ehlers-Danlos Syndrome
While EDS has no cure, treatment focuses on symptom management and complication prevention.
1. Pain Management
Anti-inflammatory medications (NSAIDs) to reduce joint and muscle pain.
Low-dose naltrexone (LDN), which may help manage chronic pain and inflammation.
2. Physical Therapy & Muscle Strengthening
Strength training can stabilize joints and prevent frequent dislocations.
Low-impact exercises (such as swimming and pilates) to build muscle without overstretching joints.
Avoiding excessive stretching (e.g., yoga), as it can worsen joint instability.
3. Joint Protection & Mobility Aids
Braces and compression garments to support weak joints.
Using mobility aids (such as canes or wheelchairs) when necessary.
4. Digestive & Nutritional Support
Eating a balanced, fiber-rich diet to aid digestion and prevent constipation.
Hydration and electrolyte balance to manage autonomic dysfunction.
5. Preventing Injuries & Complications
Avoiding high-impact activities that could strain joints.
Regular cardiovascular check-ups for those with vascular EDS.
Living with Ehlers-Danlos Syndrome
EDS is a lifelong condition, but early diagnosis and proper management can significantly improve daily function and overall health. Learning to listen to your body, pace activities, and seek support from medical professionals can help those with EDS live a more comfortable and active life.
If you suspect you have EDS or experience chronic joint instability, consult a healthcare provider for a thorough evaluation and personalized management plan.
References
Mayo Foundation for Medical Education and Research. (2022, August 25). Ehlers-Danlos syndrome. Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/ehlers-danlos-syndrome/symptoms-causes/syc-20362125
Miklovic T, Sieg VC. Ehlers-Danlos Syndrome. [Updated 2023 May 29]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK549814/
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