Saturday, February, 11, 2012

Ehlers-Danlos syndrome

Table of Contents

Symptoms

Symptoms of EDS include:

  • Double-jointedness
  • Easily damaged, bruised, and stretchy skin
  • Easy scarring and poor wound healing
  • Flat feet
  • Increased joint mobility, joints popping, early arthritis
  • Joint dislocation
  • Joint pain
  • Premature rupture of membranes during pregnancy
  • Very soft and velvety skin
  • Vision problems

Signs and tests

Examination by the health care provider may show:

  • Deformed surface of the eye (cornea)
  • Excess joint laxity and joint hypermobility
  • Mitral valve prolapse
  • Periodontitis
  • Rupture of intestines, uterus, or eyeball (seen only in vascular EDS, which is rare)
  • Soft, thin, or very stretchy (hyperextensible) skin

Tests performed to diagnose EDS include:

  • Collagen typing (performed on a skin biopsy sample)
  • Collagen gene mutation testing
  • Echocardiogram (heart ultrasound)
  • Lysyl hydroxylase or oxidase activity


Review Date: 11/07/2010
Reviewed By: David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)