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