How to Diagnose Ehlers Danlos Syndrome?

See a doctor experienced in connective tissue disorders, such as a geneticist, rheumatologist, or knowledgeable primary care clinician

Review personal and family medical history for hypermobility, frequent dislocations, easy bruising, stretchy skin, poor wound healing, chronic pain, or vascular events

Perform a physical examination using the Beighton score to assess joint hypermobility

Assess for other clinical features associated with Ehlers-Danlos syndrome, depending on subtype

Rule out other conditions that can cause similar symptoms

Consider genetic testing when indicated, especially for subtypes with known gene associations

Evaluate for complications such as heart, blood vessel, skin, and joint problems

Use established diagnostic criteria for the specific Ehlers-Danlos syndrome subtype

Confirm the diagnosis with a specialist familiar with Ehlers-Danlos syndrome

Seek urgent evaluation if there is chest pain, sudden severe pain, fainting, or signs of vascular complications

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