EDS – Ehlers-Danlos syndrome

What are the Ehlers-Danlos Syndromes?

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 characterised 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.

For those who meet the minimal clinical requirements for an EDS subtype—but who have no access to molecular confirmation; or whose genetic testing shows one (or more) gene variants of uncertain significance in the genes identified for one of the EDS subtypes; or in whom no causative variants are identified in any of the EDS-subtype-specific genes—a “provisional clinical diagnosis” of an EDS subtype can be made. These patients should be followed clinically, but alternative diagnoses and expanded molecular testing should be considered.

Please remember that an individual’s experience with an EDS is their own, and may not necessarily be the same as another person’s experience. Diagnostic criteria are meant solely to distinguish an EDS from other connective tissue disorders, and there are many more possible symptoms for each EDS than there are criteria.

How prevalent is Ehlers-Danlos Syndrome?

At this time, research statistics of Ehlers-Danlos Syndrome show the prevalence as 1 in 2,500 to 1 in 5,000 people. Recent clinical experience suggests Ehlers-Danlos Syndrome is more common. The condition is known to affect both males and females of all racial and ethnic backgrounds.

How is Ehlers-Danlos Syndrome inherited?

The two known inheritance patterns for Ehlers-Danlos Syndrome include autosomal dominant and autosomal recessive Regardless of the inheritance pattern, we have no choice in which genes we pass on to our children.

What is the prognosis of someone with Ehlers-Danlos Syndrome?

The prognosis depends on the type of Ehlers-Danlos Syndrome and the individual. Life expectancy can be shortened for those with the Vascular Type of Ehlers-Danlos Syndrome due to the possibility of organ and vessel rupture. Life expectancy is usually not affected in the other types. There can be a wide or narrow range of severity within a family, but each person’s case of Ehlers-Danlos Syndrome will be unique. While there is no cure for Ehlers-Danlos Syndrome, there is treatment for symptoms, and there are preventative measures that are helpful for most.

This information is provided by The Ehlers-Danlos Society,  for more detailed information or support please visit the Ehlers-Danlos Society website or click on the links below to read more.

EDS Symptoms

EDS Diagnosis

EDS Types

Hypermobility Spectrum Disorder