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Home > Emergency Medical Minute > Podcast # 366: Ehlers Danlos
Podcast: Emergency Medical Minute
Episode:

Podcast # 366: Ehlers Danlos
Category: Science & Medicine
Duration: 00:04:05
Publish Date: 2018-08-15 11:00:00
Description:

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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