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Tests and diagnosis
By Mayo Clinic staffYour doctor will likely begin with a complete physical examination and a careful recording of your medical and family histories. Extremely loose joints, fragile or stretchy skin, and a family history of EDS is often enough to make a diagnosis of EDS.
Sometimes, additional tests are ordered to confirm an EDS diagnosis or to determine the type of EDS you have. They include:
- Genetic tests. If your family's genetic mutation is already known, a DNA test can confirm vascular type EDS. Prenatal DNA testing and preimplantation genetic diagnosis, a method that tests embryos obtained by in vitro fertilization, may be available.
- Skin biopsy. A diagnosis of vascular type EDS can be confirmed by checking for abnormalities in the collagen produced by your skin cells. In this test, a small sample of your skin is removed and examined under a microscope.
- Echocardiogram. To check for the heart conditions that can occur with some types of EDS, your doctor may recommend an echocardiogram, which is an ultrasound of your heart. An echocardiogram provides real-time images of your heart in motion, and can help identify abnormalities in the heart muscle and valves.
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- Whitelaw SE. Ehlers-Danlos syndrome, classical type: Case management. Dermatology Nursing. 2004;16:433.
- Sheon RP. Clinical manifestations and treatment of the hypermobility syndrome. http://www.uptodate.com/home/index.html. Accessed Jan. 27, 2010.
- Tong I. Ehlers-Danlos syndrome. In: Ferri FF. Ferri's Clinical Advisor 2010. Philadelphia, Pa: Mosby Elsevier; 2009. http://www.mdconsult.com/das/book/body/188281291-3/965853179/2088/208.html#4-u1.0-B978-0-323-05609-0..00014-9--sc0025_4217. Accessed Feb. 10, 2010.
- Volkov N, et al. Ehlers-Danlos syndrome: Insights on obstetric aspects. Obstetrical & Gynecological Survey. 2006;62:51.
- Voermans NC, et al. Neuromuscular involvement in various types of Ehlers-Danlos syndrome. Annals of Neurology. 2009;65:687.
- Krakow D. Heritable diseases of connective tissue. In: Firestein GS, et al. Kelley's Textbook of Rheumatology. 8th ed. Philadelphia, Pa.: W.B. Saunders; 2008. http://www.mdconsult.com/das/book/body/188281291-3/965853179/1807/728.html. Accessed March 10, 2010
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