498 Objective Evidence of Gastrointestinal Disorders in Patients With 22q11.2 Deletion Syndrome

Abstract

INTRODUCTION: 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion syndrome (1:3000-6000 live births) and the most common cause of DiGeorge Syndrome (congenital heart disease, parathyroid hypoplasia, thymic hypoplasia). However, the 22q11.2DS phenotype varies markedly among patients. We previously studied a smaller subset of patients with 22q11.2DS (n = 72) and found that chronic gastrointestinal (GI) symptoms were common. Here we expand our previous observations to a larger cohort (n = 175) and also present objective study data in an effort to characterize these GI problems as structural versus functional. METHODS: Adult patients with 22q11.2DS were retrospectively assessed from our cohort of >1400 patients with a confirmed 22q11.2 deletion followed in the 22q and You Center at the Children's Hospital of Philadelphia. Included patients had at least one problem list, medication list, review of systems, and outpatient physician evaluation at ≥17 years of age. Broad clinical data were abstracted, including results of relevant imaging and laboratory studies. All available imaging studies were reviewed for radiologic and pathologic abnormalities. All routine laboratory studies were reviewed, and the lowest value was recorded for each test. RESULTS: 672 consecutive charts were reviewed, of which 175 met inclusion criteria. Included patients (45% F) ranged from 17 to 59 years of age (mean 26.1; SD 8.1). Chronic GI symptoms were common from childhood through adulthood (Figure 1), but congenital GI malformations were rare (4%). Additionally, autoimmune GI disorders occurred at the frequency of the general population [celiac disease (1%); inflammatory bowel disease (0.6%)]. However, motility disorders were common and accounted for the vast majority of GI symptoms (Figure 2). Pertinent laboratory results were also reported and showed a high rate of anemia (Figure 3). CONCLUSION: Specialized GI studies were performed commonly in our study population, reinforcing our prior observation that GI disorders place a significant burden on patients with 22q11.2DS. In addition to the well-described palatal abnormalities affecting this population, these studies revealed a wide range of non-structural GI problems. We conclude that a large burden of GI illness in 22q11.2DS is functional. Finally, the known chromosomal microdeletions present in patients with 22q11.2DS may provide an explanatory framework for understanding the etiology of functional GI symptoms in the general population.