Keywords: Clinical Genetics, Malformations and Dysmorphology, KW016 - CHARACTERIZATION OF SYNDROMES, KW022 - CLINICAL HISTORY, KW037 - DYSMORPHOLOGY, KW052 - GASTROINTESTINAL SYSTEM, KW099 - NATURAL HISTORY

Gastrointestinal Disorders in Patients with Hypermobile or Classical Ehlers-Danlos Syndromes. A. Gustafson¹, B.F. Griswold², L. Sloper², M. Lavallee⁴, C.A. Francomano³, N.B. McDonnell² 1) Brown Univ, Providence, RI; 2) LCI, NIA/NIH, Baltimore,MD; 3) GBMC,Baltimore, MD; 4) IUSM, South Bend, IN.

   Ehlers-Danlos syndromes (EDS) are a heterogeneous group of hereditary disorders of connective tissue that are characterized by joint, skin, and vascular abnormalities. Most literature reports of gastrointestinal (GI) involvement in EDS have been limited to patients with vascular EDS. Patients with vascular EDS have abnormalities of type III collagen, a constituent of the bowel wall, and thus prone to GI complications and bowel rupture. Patients with other types of EDS, however, also report GI dysfunction. Complete physicals and medical histories were obtained from 90 patients with hypermobile or classical types of EDS enrolled in the National Institutes on Aging protocol 2003-086, “Clinical and Molecular Manifestations of Heredity Disorders of Connective Tissue.” We found a high prevalence of GI manifestations in this cohort of patients, including severe chronic constipation (17%), irritable bowel syndrome (12%), acid reflux or gastroesophageal reflux disease (14%), and/or chronic abdominal pain (22%). Gastroparesis was noted in four subjects. The prevalence of each of these disorders was significantly higher in our cohort (P<.0001) compared with the general population. In our cohort, lack of tissue integrity may cause structural abnormalities, decreased blood vessel wall strength, and/or altered motility or absorption, which may all contribute to development of GI disorders.