What is Ehlers-Danlos syndromes?

In honor of EDS Awareness month, we wanted to highlight a condition that affects members of our Medisafe community. The following is information from The Ehlers-Danlos Society. More information is available on their website here.


The Ehlers-Danlos syndromes are a group of connective tissue disorders that can be inherited and are varied both in how affect the body and in their genetic causes. They are generally characterized by joint hypermobility (joints that stretch further than normal), skin hyperextensibility (skin that can be stretched further than normal), and tissue fragility.

The Ehlers-Danlos syndromes (EDS) are currently classified into thirteen subtypes. Each EDS subtype has a set of clinical criteria that help guide diagnosis; a patient’s physical signs and symptoms will be matched up to the major and minor criteria to identify the subtype that is the most complete fit. There is substantial symptom overlap between the EDS subtypes and the other connective tissue disorders including hypermobility spectrum disorders, as well as a lot of variability, so a definitive diagnosis for all the EDS subtypes when the gene mutation is known—all but hypermobile EDS (hEDS)—also calls for confirmation by testing to identify the responsible variant for the gene affected in each subtype.

What are the symptoms of Ehlers-Danlos syndromes?

Clinical manifestations of an Ehlers-Danlos syndrome are most often joint and skin related and may include:

Joints

Joint hypermobility; loose/unstable joints which are prone to frequent dislocations and/or subluxations; joint pain; hyperextensible joints (they move beyond the joint’s normal range); early onset of osteoarthritis.

Skin

Soft velvety-like skin; variable skin hyper-extensibility; fragile skin that tears or bruises easily (bruising may be severe); severe scarring; slow and poor wound healing; development of molluscoid pseudo tumors (fleshy lesions associated with scars over pressure areas).

How prevalent are Ehlers-Danlos Syndromes?

At this time, research statistics of the Ehlers-Danlos syndromes show the total prevalence as 1 in 2,500 to 1 in 5,000 people. Recent clinical experience suggests that Ehlers-Danlos syndrome may be more common. The conditions are known to affect both males and females of all racial and ethnic backgrounds.

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