Ehlers-Danlos Syndrome - Diagnosis

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How are Ehlers-Danlos syndromes diagnosed?

The diagnosis of Ehlers-Danlos syndrome is based upon the clinical findings of the patient and the family history. For some types of Ehlers-Danlos syndrome, a skin biopsy to determine the chemical makeup of the connective tissue can help to suggest the diagnosis.

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See what others are saying

Comment from: Piggygirl, 19-24 Male (Caregiver) Published: August 06

My son is 19 years old and has this intense pain in his shoulder for 3 years now. We have been to 4 different orthopedic doctors because we thought it was his rotor cuff. The last doctor asked us if he was double jointed. This is the second time a doctor has asked us this. I can remember when he was younger, he would always have pain in his knees and ankles but were told it was growing pains. This new doctor told us to ask our primary doctor to look into connective tissue diseases. We are at our wits' ends with this Ehlers-Danlos syndrome. I cannot see my son in pain anymore.

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Comment from: dlj, Male (Patient) Published: May 01

I was diagnosed with Ehlers-Danlos syndrome while in the process of filing for disability due to some minor genitourinary/gastrointestinal problems that turned into major problem post-surgical. He said my history pointed clearly to it, and was surprised my primary care physician did not suggest it already.

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