Podcast # 366: Ehlers Danlos

Podcast # 366: Ehlers Danlos

Author: Gretchen Hinson, MD.

Educational Pearls:

  • Heritable mutation in collagen synthesis and expression commonly resulting in joint hyperextension and skin elasticity.
  • Vascular type can result in aneurysm formation and rupture in young patients.
  • Patients are also at risk for spontaneous bowel rupture.
  • Pregnant women can present with uterine rupture.

 

References

Byers PH, Murray ML (2012). “Heritable collagen disorders: the paradigm of Ehlers?Danlos syndrome”. Journal of Investigative Dermatology. 132 (E1): E6?11.

Pepin MG, Byers PH. Ehlers-Danlos Syndrome Type IV. In: Pagon RA, Bird TD, Dolan CR, et al., eds. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.

Yoneda, A., Okada, K., Okubo, H., Matsuo, M., Kishikawa, H., Naing, B. T., ? Shimada, T. (2014). Spontaneous Colon Perforations Associated with a Vascular Type of Ehlers-Danlos Syndrome. Case Reports in Gastroenterology, 8(2), 175?181. http://doi.org/10.1159/000363373

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