Complex & Invisible Health / Ehlers-Danlos Syndrome & Hypermobility
Ehlers-Danlos Syndrome (EDS) & Hypermobility
The Ehlers-Danlos syndromes are a group of inherited connective tissue disorders. They affect collagen and related proteins that give strength and elasticity to skin, joints, blood vessels and other tissues.
About EDS and hypermobility
The 2017 international classification describes 13 types of EDS. Hypermobile EDS (hEDS) is the most common, and it's diagnosed with clinical criteria because no causative gene has yet been identified. Most other types, such as classical and vascular EDS, have known genetic causes and are confirmed through clinical genetic testing.
Hypermobility spectrum disorders (HSD) describe symptomatic joint hypermobility that doesn't meet the criteria for hEDS. HSD can have just as much impact on daily life.
Common symptoms and challenges
- Joints that move beyond the typical range, with frequent sprains, subluxations or dislocations
- Chronic joint and muscle pain
- Soft, stretchy or fragile skin, easy bruising and slow wound healing
- Fatigue
- Co-occurring conditions such as POTS and digestive problems
Genetic and biological factors
Well established: Most EDS types are caused by variants in specific genes involved in collagen or related proteins. For example, classical EDS is usually linked to COL5A1 or COL5A2, and vascular EDS to COL3A1.
Still being researched: hEDS runs in families and is very likely genetic, but its cause hasn't been found. Researchers are also studying why hEDS and HSD often occur alongside dysautonomia and mast cell symptoms.
Vascular EDS can affect arteries and organs. Anyone with features of vascular EDS or a family history of it should ask a healthcare provider about a medical genetics evaluation.
Laboratory testing
EDS is diagnosed by a clinician using a physical examination, family history and the 2017 criteria. Genetic testing for non-hypermobile types is typically arranged through a medical genetics service, with genetic counselling before and after testing.
Important limitations: None of the tests we currently offer analyse collagen or other connective tissue genes. They can't confirm or rule out any type of EDS, and there is no genetic test for hEDS.
Related Tests
No confirmed test available yet
We don't currently offer a laboratory test with a meaningful, scientifically supported connection to this topic, so we don't list one here. We'd rather show nothing than suggest a connection the science doesn't support.
Learn more about what genetic tests can and cannot show on our Genetics & Connective Tissue page.
For education only. This information is not medical advice and doesn't replace evaluation by a qualified healthcare professional. Health & laboratory disclaimer