Published: 04/18/2013 - Updated: 11/05/2018
The minimum prevalence rate of Celiacs with Down syndrome has risen to 6.3%. The plasmatic determination of antiendomysium antibodies (SSA) must be added to screening for celiac disease in patients with Down syndrome. This is what researchers believe at the International University of Catalonia, who assessed the prevalence of this intestinal pathology in 284 subject with Down syndrome. The analysis included the determination of plasma concentrations of antigliadin (AAG) and EPA. If SSA tested positive, a jejunal biopsy must then be performed to rule out celiac disease.
Subjects with symptoms and biochemical parameters indicative of malabsorption also underwent intestinal biopsy.
Both the presence and duration of symptoms related to celiac disease was evaluated in the test subjects, as well as those of other diseases.
6% of the sample group produced positive results for EPA which dropped to 4.6% for AAG.
In all cases a histopathological examination revealed lesions typical to those of celiacs. Celiac disease diagnosis was confirmed in 18 of 19 subjects undergoing jejunal biopsies.
In this group, 94% had EPA and 78% had AAG. The minimum prevalence rate of celiac disease in this group rose to 6.3%. Regarding the development of this intestinal pathology, the age of onset ranged between 2 and 15 years of age.
In most cases, weight and height were below the 10th percentile.
83% of subjects had symptoms of the disease, while in 3 cases, symptoms were clinically silent. Among associated diseases were cardiac abnormalities, secondary to hypothyroidism and autoimmune thyroiditis. A gluten-free diet resulted in remission of symptoms, negative serological markers and histological recovery, and significant increase in the weight and height.
Experience confirms the relative association between Down syndrome and celiac disease.
In some cases, a delay in diagnosis of this intestinal disease may be due to symptoms often attributed to trisomy. Determining AAG levels is not sufficient to identify patients that are suspected to have celiac disease. Therefore, this EPA study is undoubtedly useful in selecting which individuals should be subjected to jejunal biopsy, resumed the authors.
- Sharr, C., Lavigne, J., Elsharkawi, I. M. A., Ozonoff, A., Baumer, N., Brasington, C., … Skotko, B. G. (2016). Detecting celiac disease in patients with Down syndrome. American Journal of Medical Genetics. Part A, 170(12), 3098–3105.
- Pavlovic, M., Berenji, K., & Bukurov, M. (2017). Screening of celiac disease in Down syndrome – Old and new dilemmas. World Journal of Clinical Cases, 5(7), 264–269.
- Ludvigsson, J. F., Lebwohl, B., Green, P. H. R., Chung, W. K., & Marild, K. (2017). Celiac disease and Down syndrome mortality: a nationwide cohort study. BMC Pediatrics, 17(1), 41.
- Marild, K., Stephansson, O., Grahnquist, L., Cnattingius, S., Soderman, G., & Ludvigsson, J. F. (2013). Down syndrome is associated with elevated risk of celiac disease: a nationwide case-control study. The Journal of Pediatrics, 163(1), 237–242.