Diagnosis for the most common form of Ehlers-Danlos syndrome — hypermobility — is based on signs and symptoms, including extremely loose joints and stretchy skin. For other rarer types, doctors may use genetic testing to help clarify the diagnosis. Most genetic testing is done by a blood test; occasionally a skin biopsy may be needed.
Doctors may also order an ultrasound of your heart (echocardiogram) or a CT scan of your heart and major blood vessels to confirm your diagnosis.
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- Firestein GS, et al. Kelley's Textbook of Rheumatology. 8th ed. Philadelphia, Pa.: Saunders Elsevier; 2009. http://www.mdconsult.com/das/book/body/208746819-6/0/1807/0.html. Accessed July 10, 2012.
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- Wolff K, et al. Fitzpatrick's Dermatology in General Medicine. 7th ed. New York, N.Y.: The McGraw-Hill Companies; 2008. http://www.accessmedicine.com/resourceTOC.aspx?resourceID=505. Accessed July 10, 2012.
- Ferri FF. Ferri's Clinical Advisor 2013:5 Books in 1. Philadelphia, Pa.: Mosby Elsevier; 2012. http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-0-323-08373-7..00002-9&isbn=978-0-323-08373-7&about=true&uniqId=343863096-23. Accessed July 10, 2012.
- Your child and Ehlers-Danlos syndrome. Ehlers-Danlos National Foundation. http://www.ednf.org/index.php?option=com_content&task=view&id=1436&Itemid=88889040. Accessed July 12, 2012.