BACKGROUND: Patients with Down Syndrome (DS) have an increased risk of developing autoimmune diseases such as thyroid disease and celiac disease (CD). The reported prevalence of CD in DS populations varies between 4% and 17%, while the reported prevalence of thyroid disease is about 30%. Recognizing these risks, the growing consensus is that DS patients should be universally screened for both diseases.
OBJECTIVE: To assess the percentage of pediatric patients with DS screened for CD and thyroid disease within the entire Cleveland Clinic Health System, and compare screening rates among provider groups.
DESIGN/METHODS: This retrospective chart review analyzed all 181 patients aged 2 to 20 years seen within the Cleveland Clinic Health System during the years 2005 and 2006 with an ICD-9 diagnosis of DS. A patient was screened for thyroid disease if a thyroid stimulating hormone level was measured and for CD if either endomysial or transglutaminase antibodies were measured.
RESULTS: Two patients were previously diagnosed with CD. Of the remaining 179 patients, 51 (29%) were screened at least once for CD during the years 2005 and 2006, and 4 new cases of CD were discovered. Fifty-three patients were previously diagnosed with thyroid disease. Of the remaining 128 patients, 61 (48%) were screened for thyroid disease during the years 2005 and 2006, resulting in 11 new cases. Chi square test revealed a statistically significant (P value <0.001) difference in the screening rates for both CD and thyroid disease among primary care physicians and 4 pediatric sub-specialties. Pediatric endocrinologists screened for CD in 89% of patients. Primary care physicians more commonly screened for thyroid disease (73%) and CD (19%) than the combined pediatric sub-specialists in cardiology, otolaryngology, and neurology (thyroid disease 26%, CD 11%).
CONCLUSIONS: Enhanced education of both primary care physicians and pediatric sub-specialists is needed to improve screening of patients with DS for associated CD and thyroid disease.