Clinical presentation of celiac disease and the diagnostic accuracy of serologic markers in children

Abstract

There has been growing recognition of a changing clinical presentation of celiac disease (CD), with the manifestation of milder symptoms. Serologic testing is widely used to screen patients with suspected CD and populations at risk. The aim of this retrospective analysis was to evaluate the clinical presentation of CD in childhood, assess the diagnostic value of serologic tests, and investigate the impact of IgA deficiency on diagnostic accuracy. We evaluated 206 consecutive children with suspected CD on the basis of clinical symptoms and positive serology results. Ninety-four (46%) had biopsy-proven CD. The median age at diagnosis of CD was 6.8 years; 15% of the children were <2 years of age. There was a higher incidence of CD in girls (p=0.003). Iron deficiency and intestinal complaints were more frequent in children with CD than those without CD (61% vs. 33%, p=0.0001 and 71% vs. 55%, p=0.02, respectively), while failure to thrive was less common (35% vs. 53%, p=0.02). The sensitivity of IgA tissue transglutaminase (IgA-tTG) was 0.98 when including all children and 1.00 after excluding children with selective IgA deficiency. The specificity of IgA-tTG was 0.73 using the recommended cut-off value of 20 IU, and this improved to 0.94 when using a higher cut-off value of 100 IU. All children with CD and relative IgA deficiency (IgA levels that are measurable but below the age reference [n=8]) had elevated IgA-tTG. In conclusion, CD is frequently diagnosed in school-age children with relatively mild symptoms. The absence of intestinal symptoms does not preclude the diagnosis of CD; many children with CD do not report intestinal symptoms. While the sensitivity of IgA-tTG is excellent, its specificity is insufficient for the diagnostic confirmation of a disease requiring life-long dietary restrictions. Children with negative IgA-tTG and decreased but measurable IgA values are unlikely to have CD.

Türk çocuklarında çölyak hastalığı ile ilişkili olası etmen ve belirtilerin değerlendirilmesi

“…On the other hand, some studies have reported that diarhhea has been observed with a lower frequency in recent years (25,26). Similarly, gastrointestinal symptoms including abdominal distension, weight loss, constipation, vomiting and abdominal pain have been reported to gradually decrease in recent years (12,20,27). In accordance with the literature, we found these gastrointestinal sypmtoms with a lower rate in our celiac group compared to the control group.…”

Positive Deamidated Gliadin Peptide Antibodies and Negative Tissue Transglutaminase IgA Antibodies in a Pediatric Population: To Biopsy or Not To Biopsy

“…Further inquiries into the medical records of these infants indicated that the presenting clinical symptoms did not differ significantly from those of biopsy-proven celiac children (10). In the majority of cases (64%), the clinical symptoms persisted throughout the follow-up period.…”

Evaluation of glutathione peroxidase and superoxide dismutase enzyme polymorphisms in celiac disease patients

“…Celiac disease (CD), also known as gluten-sensitive entheropathy or celiac sprue, is a multifactorial inflammatory small bowel disorder characterized by malabsorbtion that is triggered by mucosal damage, the latter occuring, as a response to gliadin fraction of gluten found in cereal products like barley, oat, rye, and wheat (Bracken et al, 2008;Lurz et al, 2009). Nowadays, it is known that CD is an illness that involves all body systems alongside the typical enteropathy and is more complicated than simple malabsorption (Ertekin et el., 2005;Hill et al, 2005;Mehta et al, 2008).…”

“…It has been reported that immunological and genetic factors, and gluten as an environmental factor all play important roles in etiopathogenesis of CD (Ertekin et al, 2005;Demirceken et al, 2008). Commonly observed clinical symptoms in CD are diarrhea, vomiting, abdominal pain, weight loss, general weakness, muscle wasting, loss of appetite, growth and developmental retardation, and bad smelling, fatty stool (Lurz et al, 2009).…”