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Open Access Highly Accessed Research article

Symptoms and signs in individuals with serology positive for celiac disease but normal mucosa

Jonas F Ludvigsson12*, Lena Brandt2 and Scott M Montgomery234

Author Affiliations

1 Department of Pediatrics, Örebro University Hospital, Sweden

2 Clinical Epidemiology Unit, Karolinska University Hospital, Karolinska Institutet, Sweden

3 Clinical Research Centre, Örebro University Hospital, Sweden

4 Department of Primary Care and Social Medicine, Charing Cross Hospital, Imperial College, London, UK

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BMC Gastroenterology 2009, 9:57  doi:10.1186/1471-230X-9-57

Published: 22 July 2009

Abstract

Background

Antibody serology is an important tool in the investigation of celiac disease (CD), but does not always correlate with mucosal appearance in the small intestine. Patients with positive CD serology but normal mucosa (Marsh 0) are at increased risk of future CD. In this study we describe a model for identifying and characterizing individuals with normal mucosa but positive CD serology. Such individuals are sometimes referred to as having latent CD.

Methods

The records of ten Swedish pathology departments were used to identify individuals with biopsies indicating normal duodenal/jejunal mucosa. Using the national personal identification number, these data were linked with CD serology data (antigliadin, antiendomysial and tissue transglutaminase antibodies); and we thereby identified 3,736 individuals with normal mucosa but positive CD serology. Two independent reviewers then manually reviewed their biopsy reports to estimate comorbidity. We also randomly selected 112 individuals for validation through patient chart review.

Results

The majority of the 3,736 individuals were females (62%). Children (0–15 years) made up 21.4%. The median number of biopsy specimen was 3. Our review of biopsy reports found that other gastrointestinal comorbidity was rare (inflammatory bowel disease: 0.4%; helicobacter pylori infection: 0.2%). Some 22% individuals selected for patient chart review had a relative with CD. The most common symptoms among these individuals were diarrhea (46%) and abdominal pain (45%), while 26% had anemia. Although 27% of the individuals selected for validation had been informed about gluten-free diet, only 13% were adhering to a gluten-free diet at the end of follow-up.

Conclusion

Individuals with positive CD serology but normal mucosa often have CD-like symptoms and a family history of CD.