Vascular Ehlers-Danlos Syndrome, Part 1

Dive into vascular Ehlers-Danlos syndrome. What is it? How does it present? Get clues to its diagnosis and learn more about collagen than you ever wanted to know. Intro 0:12 In this episode 0:17 Why vascular Ehlers-Danlos syndrome? 0:28 Case study: Dr. Mories 2:20 What can we learn about vascular Ehlers-Danlos syndrome? 05:02 Collagen and elastin 05:57 Collagen: horses and glue 07:07 More about collagen 10:35 Why is it a problem to miss a little bit of collagen? 14:14 The problem in vascular Ehlers-Danlos syndrome 15:06 The history of vascular EDS 15:41 How is vascular Ehlers-Danlos syndrome diagnosed? 16:36 A vascular Ehlers-Danlos syndrome diagnosis 22:33 Mouse models 23:29 Clinical and genetic features of vascular Ehlers-Danlos syndrome 24:39 Question of vasculitis 25:55 The skin: the most common symptom of vascular EDS 28:00 Family history, de novo mutations and pregnancy 29:43 Surgery or vascular intervention 31:39 How do patients do in the long-term? 32:54 Summary 34:00 Preview of part 2 35:42 Thanks 36:25 Disclosures: Brown reports no relevant financial disclosures. We'd love to hear from you! Send your comments/questions to Dr. Brown at [email protected]. Follow us on Twitter @HRheuminations @AdamJBrownMD @HealioRheum. References: Barabas AP. J Cardiovasc Surg (Torino). 1972;13(2):160-7. Chow MJ, et al. Biophys J. 2014;doi:10.1016/j.bpj.2014.05.014. Liu X, et al. Proc Natl Acad Sci USA. 1997;doi:10.1073/pnas.94.5.1852. Mories A. Scott Med J. 1960;5:269-72. Pepin M, et al. N Engl J Med. 2000;doi:10.1056/NEJM200003093421001. Pepin MG, et al. Genet Med. 2014;doi:10.1038/gim.2014.72. Piez KA. Matrix Biol. 1997;doi:10.1016/s0945-053x(97)90037-8. Pope FM, et al. Proc Natl Acad Sci USA. 1975;doi:10.1073/pnas.72.4.1314. Wagenseil JE, et al. J Cardiovasc Transl Res. 2012;doi:10.1007/s12265-012-9349-8. Zilocchi M, et al. AJR Am J Roentgenol. 2007;doi:10.2214/AJR.07.2370.