Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Ehlers-Danlos syndrome


Tests & Diagnosis

Newline Maker

How is Ehlers-Danlos syndrome diagnosed?

A diagnosis of Ehlers-Danlos syndrome is typically based on the presence of characteristic signs and symptoms. Depending on the subtype suspected, some of the following tests may be ordered to support the diagnosis:[1][2][3]
  • Collagen typing performed on a skin biopsy may aid in the diagnosis of vascular type, arthrochalasia type, and dermatosparaxis type. Collagen is a tough, fiber-like protein that makes up about a third of body protein. It is part of the structure of tendons, bones, and connective tissues. People with Ehlers-Danlos syndrome often have abnormalities of certain types of collagen.
  • Genetic testing is available for many subtypes of Ehlers-Danlos syndrome; however, it is not an option for most families with the hypermobility type.
  • Imaging studies such as CT scan, MRI, ultrasound, and angiography may be useful in identifying certain features of the condition.
  • Urine tests to detect deficiencies in certain enzymes that are important for collagen formation may be helpful in diagnosing kyphoscoliosis type.
Last updated: 5/21/2015

References
  1. Defendi GL. Genetics of Ehlers-Danlos Syndrome. Medscape Reference. October 15, 2013; http://emedicine.medscape.com/article/943567-overview.
  2. Susan P Pauker, MD, FACMG; Joan Stoler, MD. Clinical manifestations and diagnosis of Ehlers-Danlos syndromes. UpToDate. December 2014; Accessed 5/21/2015.
  3. Sobey G. Ehlers-Danlos syndrome: how to diagnose and when to perform genetic tests. Arch Dis Child. Jan 2015; 100(1):57-61.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.
Other Names for this Disease
  • ED syndrome
  • EDS
  • Ehlers Danlos syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.