Francis Wade, MD1, Ahmad M. Al-Taee, MD2, Elie Ghoulam, MD2, Charlene Prather, MD1
1Saint Louis University School of Medicine, Saint Louis, MO; 2Saint Louis University, St. Louis, MO
Introduction: Ehlers-Danlos syndrome hypermobility type (EDS-HT) is a multisystem disorder characterized by joint and spine hyperextensibility that may also involve the gastrointestinal (GI) tract resulting in various motility disorders. The Malone antegrade continence enema (MACE) procedure is most commonly used to treat severe constipation in children with neurogenic bowel disorders. We describe a case of severe EDS-HT related refractory constipation in an adult that was treated with the MACE procedure.
Case Description/Methods: 22-year-old female with history of EDS-HT and mast cell activation disorder presented to our clinic for evaluation of chronic constipation, food regurgitation, nausea, and vomiting. Workup included a gastric emptying study showing gastroparesis, a colonic transit study showing slow transit, anorectal manometry showing a weak anal sphincter but no signs of dyssynergicdefecation, and a proctogram showing normal emptying with a weak pelvic floor and excessive descent. Clinical course was complicated by recurrent attacks of nausea, vomiting, and abdominal pain without evidence of obstruction resulting in repeated emergency room visits. Chronic constipation was attributed to dysmotility from EDS-HT. Various combinations of osmotic and stimulant laxatives were utilized with inadequate response. She elected to undergo MACE procedure. Her symptoms gradually resolved after the procedure and she started having one bowel movement daily with a simplified bowel regimen including once daily antegrade enemas.
Discussion: The pathophysiology of GI dysmotility in EDS-HT is not completely understood but possible mechanisms include altered biomechanical properties and gut neurodevelopmental changes from extracellular matrix abnormalities. The MACE procedure involves laparoscopic placement of an appendicocecostomy tube to allow daily enema administration at the level of the cecum (Figure 1).This procedure is most commonly utilized in children with neurogenic bowel disorders but should also be considered in adult EDS-HT patients with constipation refractory to medical therapy.
This case highlights the potential for severe morbidity in EDS-HT-related GI dysmotility disorders and sheds light on the therapeutic potential of the MACE procedure in this patient population.
Citation: Francis Wade, MD; Ahmad M. Al-Taee, MD; Elie Ghoulam, MD; Charlene Prather, MD. P0204 - MALONE ANTEGRADE CONTINENCE ENEMA FOR TREATMENT OF ADULT SLOW TRANSIT CONSTIPATION IN EHLERS-DANLOS SYNDROME. Program No. P0204. ACG 2019 Annual Scientific Meeting Abstracts. San Antonio, Texas: American College of Gastroenterology.