Understanding Ehlers-Danlos Syndrome (EDS)
- Claire Faragher
- Sep 17, 2025
- 4 min read
Updated: Oct 17, 2025
It’s in the Genes
EDS is something you’re born with—it’s passed down through families. There are several different types (at least 13 so far!), each caused by changes in specific genes. Most types have a known genetic marker, but the most common form—hypermobile EDS (hEDS)—still doesn’t have a specific genetic test, which can make diagnosis a bit tricky.
The Different Types of EDS
There are 13 subtypes of EDS plus hypermobile spectrum disorder. Twelve of these conditions have identified genetic markers or mutations. hEDS and HSD do not yet have identified genetic mutations.
Classical EDS (cEDS): Associated with COL5A1 and COL5A2 mutations, characterized by skin hyperextensibility, atrophic scarring, and generalized joint hypermobility.
Classical-like EDS (clEDS): Linked to TNXB mutations, presenting with skin fragility, joint hypermobility, but no atrophic scarring.
Cardiac-valvular EDS (cvEDS): Caused by COL1A2 mutations, marked by severe cardiac-valvular disease alongside joint and skin manifestations.
Vascular EDS (vEDS): Associated with COL3A1 mutations, defined by arterial rupture risk, thin translucent skin, and facial characteristics such as a pinched nose.
Hypermobile EDS (hEDS): The most common subtype, lacking an identified genetic cause and diagnosed clinically based on specific criteria for joint hypermobility and associated features.
Arthrochalasia EDS (aEDS): Caused by COL1A1 and COL1A2 mutations, characterized by congenital hip dislocation and severe joint hypermobility.
Dermatosparaxis EDS (dEDS): Linked to ADAMTS2 mutations, presenting with extreme skin fragility, easy bruising, and characteristic facial features such as a sagging appearance.
Kyphoscoliotic EDS (kEDS): Associated with PLOD1 and FKBP14 mutations, leading to severe congenital scoliosis, hypotonia, and visual impairments.
Brittle Cornea Syndrome (BCS): Caused by ZNF469 and PRDM5 mutations, marked by corneal thinning and rupture risk, as well as other ocular complications.
Spondylodysplastic EDS (spEDS): Related to B4GALT7, B3GALT6, and SLC39A13 mutations, presenting with short stature, limb bowing, and generalized joint laxity.
Musculocontractural EDS (mcEDS): Caused by CHST14 or DSE mutations, characterized by congenital joint contractures, skin fragility, and craniofacial abnormalities.
Myopathic EDS (mEDS): Linked to COL12A1 mutations, associated with muscle weakness, joint hypermobility, and occasionally proximal contractures.
Periodontal EDS (pEDS): Caused by mutations in C1R and C1S, presenting with severe periodontal disease, early tooth loss, and a predisposition to gingival fragility.
Hypermobility Spectrum Disorder (HSD): Closely related to hEDS. People with HSD have joint hypermobility and similar symptoms, but don’t quite meet the full criteria for EDS.
How Does EDS Affect the Body?
EDS affects collagen, which is a protein found pretty much everywhere in the body. Think of collagen as the scaffolding that gives strength and stretch to your tissues. When collagen doesn’t work as it should, tissues become extra stretchy and sometimes a bit more fragile.
What Might You Notice?
Flexible Joints: Joints that bend more than usual (sometimes called “double-jointed”), which can lead to sprains or even dislocations.
Soft, Stretchy Skin: Skin that feels soft or velvety, stretches easily, and may bruise more than normal.
Lots of Different Symptoms: Because collagen is everywhere, EDS can show up in lots of ways—aches and pains, tiredness, digestive issues, and more.
Why So Many Seemingly Unrelated Symptoms?
Collagen is in just about every part of the body, so when it’s not working properly or has an altered structure, it affects the whole body, not just the joints. That’s why people with EDS often have a wide range of symptoms in multiple systems—from the musculoskeletal to the gastrointestinal, cardiovascular, autonomic, and more. No two people are exactly the same! Each person with hEDS has a slightly different presentation, which is partly why it can be so difficult and take so long to get a diagnosis.
Managing EDS: A Holistic Approach
Living with EDS can be challenging, but there are ways to manage symptoms effectively. Here are some strategies that may help:
1. Physical Therapy
Working with a physical therapist who understands EDS can be incredibly beneficial. They can help you strengthen your muscles, improve your joint stability, and develop a tailored exercise program that suits your needs.
2. Pain Management
Finding effective pain management strategies is crucial. This might include medication, acupuncture, or other alternative therapies. Always consult with a healthcare professional to find the best approach for you.
3. Nutrition and Hydration
Eating a balanced diet rich in nutrients can support your overall health. Staying hydrated is equally important, as it helps maintain tissue elasticity and joint lubrication.
4. Mindfulness and Stress Reduction
Practicing mindfulness or engaging in stress-reduction techniques can help manage the emotional toll of living with EDS. Consider yoga, meditation, or gentle stretching to promote relaxation.
5. Community Support
Connecting with others who understand what you’re going through can provide comfort and encouragement. Online forums and local support groups can be great resources.
In a Nutshell
EDS is a group of inherited conditions that affect the body’s connective tissues, with hypermobile EDS being the most common. Because collagen is everywhere, EDS can cause a wide variety of symptoms. If you think you might have EDS or HSD, it’s always a good idea to chat with a healthcare professional who knows about these conditions. Early support and the right advice can help you manage symptoms and improve your quality of life.
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