Keywords: Clinical Genetics, Malformations and Dysmorphology, KW016 - CHARACTERIZATION OF SYNDROMES, KW022 - CLINICAL HISTORY, KW052 - GASTROINTESTINAL SYSTEM, KW072 - IMMUNE SYSTEM, KW099 - NATURAL HISTORY

High prevalence of Food Allergies in Patients with Ehlers-Danlos Syndromes. H. Zhang¹, B.F. Griswold¹, L. Sloper¹, M. Lavallee³, C.A. Francomano², N.B. McDonnell², A. Gustafson¹ 1) LCI, NIA/NIH, Baltimore, MD; 2) GBMC, Baltimore, MD; 3) 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. Complete physicals and medical histories were obtained from 95 patients with hypermobile, classical, and vascular 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 food allergies in patients with EDS (14%) when compared with the general population (P<.0001). We also found a significantly higher incidence of gastrointestinal manifestations in our cohort when compared with the general population (P<.0001). The presence of food allergies also seems to correlate with gastrointestinal dysfunction in some patients. Of the patients who reported constipation, irritable bowel syndrome, gastroesophageal reflux disease, and/or chronic abdominal pain, many also reported having a food allergy (40%, 42%, 17%, and 20%, respectively). Collagen abnormalities may cause mucosal lesions, altering tissue integrity and increasing the chance of larger proteins crossing the mucosal barrier and creating an immunogenic response. Multiple studies have correlated eosinophillic gastrointestinal disorders, allergic responses that fall in between IgE and TH2-type responses that are mediated by IL-5 and other eotaxins, with classic mast cell tissue degranulation, producing gastrointestinal disorders similar to those seen in our patients. Understanding the mechanisms associated with food allergies in patients with EDS may aid in development of effective treatments.