Ehlers-Danlos Syndrome
Diagnosis & Tests
Examination by the health care provider may show:
- Excess joint laxity and joint hypermobility
- Soft, thin, or hyperextensible skin
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Mitral valve prolapse
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Periodontitis
- Signs of platelet aggregation failure (platelets do not clump together properly)
- Rupture of intestines, uterus, or eyeball (seen only in vascular EDS, which is rare)
- Deformed cornea
Tests:
- Collagen typing (performed on a skin biopsy sample)
- Collagen gene mutation testing
- Lysyl hydroxylase or oxidase activity
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Echocardiogram (heart ultrasound)
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