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