How to Diagnose EDS Hypermobility: A Step-by-Step Guide
By Nicole Martin
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Ehlers-Danlos Syndrome (EDS) Hypermobility type is a complex, multi-systemic condition characterized by joint hypermobility, soft tissue abnormalities, and chronic pain. Diagnosing EDS Hypermobility involves a thorough clinical evaluation, as there are no specific laboratory tests or imaging studies that can confirm the diagnosis. Here's a comprehensive guide on how EDS Hypermobility is diagnosed, optimized for search engines to help you find the information you need.
EDS Hypermobility is the most common type of Ehlers-Danlos Syndrome, affecting around 90% of all EDS patients. It's caused by a connective tissue defect that affects the production of collagen, a protein responsible for skin, bone, and joint strength and flexibility. This results in joint hypermobility, stretchy skin, and tissue fragility.
Initial Consultation and Medical History
Diagnosing EDS Hypermobility typically begins with an initial consultation with a healthcare provider. During this appointment, the doctor will take a detailed medical history, focusing on symptoms such as:
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Joint pain and dislocations
Skin hyperextensibility and bruising
Gastrointestinal issues like reflux and dysmotility
Fatigue and sleep disturbances
Dental issues like crowded teeth and early loss of teeth
The doctor may also ask about a family history of similar symptoms, as EDS Hypermobility can be inherited.
Clinical Evaluation: Beighton Score
The Beighton score is a simple, non-invasive tool used to assess joint hypermobility. It involves passive movements of nine joints, with a score of 4 or more out of 9 indicating hypermobility. The Beighton score is not diagnostic of EDS Hypermobility on its own, but it can help identify individuals who may need further evaluation.
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Beighton Score Criteria
Joint
Score
Little finger to forearm
1
Thumb to forearm
1
Knee to thigh
1
Elbow to arm
1
Spine (forward flexion with knees straight)
1
Differential Diagnosis
EDS Hypermobility can mimic other conditions, so it's essential to rule out other possibilities. Differential diagnoses may include Marfan syndrome, Loeys-Dietz syndrome, and other types of Ehlers-Danlos Syndrome. Genetic testing can help differentiate between these conditions.
Genetic Testing
Genetic testing can confirm a diagnosis of EDS Hypermobility by identifying mutations in the genes responsible for collagen production. However, genetic testing is not always necessary, and a clinical diagnosis based on the revised 2017 criteria may be sufficient.
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Living with a Diagnosis
Receiving a diagnosis of EDS Hypermobility can be a relief, as it explains many symptoms and allows for appropriate management. However, it's essential to remember that EDS is a complex, chronic condition that requires lifelong management. Working with a multidisciplinary team of healthcare providers can help individuals with EDS Hypermobility manage their symptoms and improve their quality of life.
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