How do I know if I have Ehlers Danlos?

You can determine if you might have Ehlers-Danlos Syndrome (EDS) by evaluating a combination of systemic symptoms, such as joint hypermobility, skin hyperextensibility, and tissue fragility, followed by a formal clinical assessment by a specialist.

Recognizing the Signs

Early indicators of Ehlers-Danlos often include joints that dislocate or subluxate easily, skin that feels unusually soft or stretches further than average, and a history of poor wound healing or wide, "cigarette-paper" scarring. Many patients with Ehlers-Danlos also report chronic, widespread musculoskeletal pain, unexplained fatigue, and a high degree of flexibility that may have been encouraged in childhood (e.g., gymnastics or dance).

Self-Assessment and Physician Consultation

When assessing yourself, look for patterns: do you have a family history of similar issues? Do you experience frequent sprains without significant injury? If these patterns exist, it is time to speak with your primary care provider. When you schedule your appointment, be specific: "I am concerned about Ehlers-Danlos because of my history of joint instability and skin fragility, and I would like a referral to a geneticist or a rheumatologist familiar with connective tissue disorders."

Tests and Advocacy

Diagnosis is primarily clinical, based on the 2017 International Classification criteria. While genetic testing is available for rarer subtypes of Ehlers-Danlos (such as the Vascular type), the most common form, Hypermobile EDS, currently lacks a definitive genetic marker. If your concerns are dismissed, document your symptoms, track your joint dislocations, and request a second opinion from a specialist at a university hospital or a center for connective tissue disorders.

When to Seek Urgent Care

While many symptoms are chronic, seek immediate medical evaluation if you experience sudden, severe abdominal pain, chest pain, or unexplained neurological deficits, as these can occasionally signal vascular complications associated with certain types of Ehlers-Danlos.

Medical Disclaimer: This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions regarding a medical condition.

References

• NIH Genetic and Rare Diseases Information Center (GARD)


• The Ehlers-Danlos Society


• Orphanet: Rare Disease Database