The Ehlers-Danlos syndromes (EDSs) are a rare group of heritable connective tissue diseases characterized by hypermobility and hyperextensibile skin.
1 According to the 2017 international classification of EDSs, there are 13 subtypes.
1 A rare 14th subtype was found in 2018.
2 Each subtype has unique aspects, and a genetic cause has been identified in all subtypes except hypermobile EDS (hEDS).
1 Hypermobile EDS is “probably the most common EDS subtype,”
3 and there are new clinical guidelines for diagnosis.
1 To aid in accurate clinical diagnosis, the hypermobility and skin manifestations experienced by patients with hEDS need to be differentiated from those experienced by patients with other types of EDSs, connective tissue diseases, or heritable diseases such as Marfan syndrome.
1,4 In addition to joint hypermobility and skin issues, patients with hEDS may also present with fatigue, chronic pain,
3 cardiovascular issues, bone mass issues, neurologic and spinal issues, psychological issues, and gastrointestinal (GI) symptoms.
5 Although there is no cure, hEDS is treatable.
3 Since so many systemic symptoms are seen in hEDS, this article reviews the clinical markers of hEDS, its comorbidities, and current treatment options, along with its relevance to musculoskeletal medicine.