Ehlers Danlos Syndrome

Ehlers Danlos Syndrome Group of inherited connective tissue disorders mostly affecting collagen production Defined by hyperextensible joints and elastic skin First described by Hippocrates in 400 BC 10 recognized types Most common are inherited by Autosomal Dominant mechanism Clinical diagnosis by Breighton Score

Breighton Score

EDS GI Involvement Worst with EDS Type IV (Collagen III) Main supportive constituent of bowel and vasculature Can also be in Types I, II, III (Collagen V and I) Mucosa, Submucosa, Serosa involvement 20% higher GI symptoms than in matched controls

Breakdown of gums and premature loss of teeth (type VIII) Subluxation of Temporo-mandibular joint

Hiatal hernia Megaesophagus Esophageal rupture with vomiting GERD

Peptic Ulcer Disease

Functional GI Pain Dysmotility IBD Malabsorption Volvulus Diverticulosis (Stomach, Gallbladder, Intestines) Perforations of Small & Large Intestines Vascular issues: Aneurysms (AAA), Rupture, Dissection, Varicosities, Arteriovenous Fistulas

Avoid fecal impaction with strict bowel regimens! Don’t use Enemas! Rectal Prolapse Hemorrhoidal Bleeds Chronic Constipation