What is Ehlers Danlos

Ehlers-Danlos syndrome (EDS) is a group of rare, inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.

Because connective tissue acts as the "glue" that holds the body together, Ehlers-Danlos can affect nearly every system in the body. Patients frequently experience musculoskeletal issues, such as frequent dislocations or chronic pain, as well as skin that is velvety to the touch and prone to scarring. Beyond the joints and skin, Ehlers-Danlos often impacts the cardiovascular system, gastrointestinal tract, and autonomic nervous system, leading to symptoms like fatigue, digestive distress, and heart rhythm irregularities.

Classification and Prevalence

There are 13 recognized types of Ehlers-Danlos, classified by the 2017 International Classification system. The most common form is Hypermobile EDS (hEDS), which currently lacks a known genetic marker. Other types, such as Classical or Vascular EDS, are caused by specific mutations in collagen-producing genes. While exact prevalence is difficult to determine due to underdiagnosis, the collective prevalence of all Ehlers-Danlos types is estimated to be approximately 1 in 5,000 individuals worldwide.

Who is Affected?

Ehlers-Danlos is a genetic condition that typically presents at birth or in early childhood, though many individuals are not formally diagnosed until adulthood. It affects all genders and ethnic groups globally. While some subtypes are inherited in an autosomal dominant pattern—meaning a child has a 50% chance of inheriting the condition from an affected parent—others occur as spontaneous (de novo) mutations.

Mechanism and Differentiation

At its core, Ehlers-Danlos involves a defect in the synthesis or structure of collagen, the protein responsible for the strength and elasticity of skin, tendons, ligaments, and blood vessels. Unlike other rheumatological conditions that cause joint inflammation, EDS is a structural issue. Clinicians differentiate it from other connective tissue disorders, such as Marfan syndrome or Loeys-Dietz syndrome, by evaluating specific clinical criteria, including the Beighton score for hypermobility and detailed family histories.

Medical Disclaimer: This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.

References

• NIH Genetic and Rare Diseases Information Center (GARD)


• Orphanet: The portal for rare diseases and orphan drugs


• The Ehlers-Danlos Society


• Online Mendelian Inheritance in Man (OMIM)