Celiac.com 03/26/2010 - Mass screening studies among the general population for celiac disease show a prevalence of approximately 0.5-1.0% in adults and in children. Yet, despite the growing numbers of newly diagnosed celiac disease patients, most cases still remain undiagnosed and therefore, untreated. In part, the masses of misdiagnosed or undiagnosed celiac disease patients are a result of the variety of disguises celiac disease can have. Celiac disease can manifest into a multitude of symptoms including, but by no means exclusive to, malabsorption syndrome, diarrhea, anemia, infertility and osteoporosis.
It has been demonstrated that there is a clear advantage to early testing for celiac disease. Early testing can aide in avoiding the irreversible damages that come from diagnosis later in life, such as stunted growth and organ damage. It is also faster for children to heal from intestinal lesions caused from undiagnosed celiac disease, when diagnosed early on. New evidence shows that 10 years after being diagnosed with celiac disease, 66% of the children diagnosed exhibited improvement in their health and overall quality of life; indicating that mass screening at an early age is critical.
This study was based on a previous study performed by mass screening for celiac disease by a group of scientists in the Netherlands between 1997 and 1998, who studied 6,127 asymptomatic children between the ages of two and four. Using endomysial antibodies (IgA EmA) testing, the children were screened for celiac disease. 57 seropositive children were then given biopsies. The scientists compared different testing methods for celiac disease, evaluated their serological persistence over time, and determined optimum cut-off points for the testing. Using serological samples obtained at biopsy, EmA and tTGA was assessed for each subject studied. Human leukocyte antigen (HLA)-typing was obtained from 55 children; 26 of those had normal biopsies and were genetically predisposed for celiac disease and 29 of the children had small-bowel alterations known to be distinctive traits for celiac disease. Of the 26 children with normal biopsies, 4% of them tested positively for HLA-DQ8, and the other 96% tested positive for HLS-DQ2. Of the 29 children diagnosed with celiac disease, all of them tested positive for HLA-DQ2. However, a proportionately large number of children who tested EmA-positive and were diagnosed with celiac disease, had normal biopsies and were thus regarded as false positives.
The results of this test confirmed that celiac disease antibody levels may fluctuate in children who are genetically predisposed for celiac disease. While the reason for the transient antibodies is still not known, it has been suggested that children who are seropositive but have normal small-intestine biopsies, potentially have celiac disease, and are susceptible to developing gluten sensitive enteropathy as they get older. Future testing is needed to establish results for this hypothesis.
However, children with histological alterations in their small-intestine biopsy indicative of celiac disease, had considerably higher antibodies for EmA than those without celiac disease. The tTGA levels were significantly higher and occurred with more frequency in children with celiac disease than in children without celiac disease. EmA persisted in all celiac disease children, but only in 50% of the non-celiac disease children. tTGA was evident in 83% of celiac disease children, and 15% in non-celiac disease children. Additionally, increasing the cut-off points provided a reduction of false positives, but resulted in lowering test sensitivity. While optimization of standard cut-off points reduced unnecessary biopsies by 50%-96%, it also reduced test sensitivity.
In conclusion, celiac disease antibodies are proven to be transient in children genetically predisposed to celiac. It is therefore crucial for medical providers to reduce the number of unnecessary biopsies. As this study has demonstrated, to reduce the number of unnecessary biopsies by 85%, serological mass screening methods may be improved by repeating EmA and/or tTGA in children who test seropositive after 6 months, and before continuing to biopsy.