hyper-mobile Ehlers Danlos Assessment
At Hawthorn Medical and Wellness Hub, we offer Hypermobile Ehlers-Danlos Diagnostic Assessment.
Hypermobile Ehlers-Danlos syndrome (hEDS) is a heritable connective tissue disorder characterized by joint hypermobility, joint instability (subluxations/dislocations), chronic pain, and skin hyperextensibility. It is a multisystem disorder often causing fatigue, gastrointestinal issues, and easy bruising, with no currently known genetic marker.
Ehlers-Danlos Syndrome is diagnosed through a combination of physical examination, a review of medical history, and genetic testing. Of the 13 recognized types, 12 are associated with specific genetic mutations. However, Hypermobile EDS (hEDS)—the most common subtype—requires a clinical diagnosis based on established criteria, including joint laxity (as assessed by the Beighton score), skin abnormalities, and family history.
How do we diagnose hEDS?
- Physical Examination: we evaluate skin hyperextensibility (stretchy skin), velvety skin texture, abnormal scarring, and joint hypermobility.
- Beighton Score: The Beighton score is a 9-point scale used to determine the extent of joint hypermobility.
- Medical History: A thorough review includes family history (with an autosomal dominant inheritance pattern), chronic pain, fatigue, and frequent joint dislocations or subluxations.
- Cardiac/Imaging Tests: Echocardiograms and eye examinations may be performed to evaluate underlying connective tissue issues, especially those involving vascular complications.
A typical diagnostic assessment takes approximately 30–45 minutes.
Once a diagnosis is confirmed, we will discuss a management plan tailored to help alleviate your symptoms. Management focuses on symptom relief through physiotherapy, pain management, and stability exercises.