Background: Limited data on a short series of patients suggest that lymphocytic enteritis (classically considered as latent coeliac disease) may produce symptoms of malabsorption, although the true prevalence of this situation is unknown. Serological markers of coeliac disease are of little diagnostic value in identifying these patients.
Aims: To evaluate the usefulness of human leucocyte antigen-DQ2 genotyping followed by duodenal biopsy for the detection of gluten-sensitive enteropathy in first-degree relatives of patients with coeliac disease and to assess the clinical relevance of lymphocytic enteritis diagnosed with this screening strategy.
Patients and methods: 221 first-degree relatives of 82 DQ2+ patients with coeliac disease were consecutively included. Duodenal biopsy (for histological examination and tissue transglutaminase antibody assay in culture supernatant) was carried out on all DQ2+ relatives. Clinical features, biochemical parameters and bone mineral density were recorded.
Results: 130 relatives (58.8%) were DQ2+, showing the following histological stages: 64 (49.2%) Marsh 0; 32 (24.6%) Marsh I; 1 (0.8%) Marsh II; 13 (10.0%) Marsh III; 15.4% refused the biopsy. 49 relatives showed gluten sensitive enteropathy, 46 with histological abnormalities and 3 with Marsh 0 but positive tissue transglutaminase antibody in culture supernatant. Only 17 of 221 relatives had positive serological markers. Differences in the diagnostic yield between the proposed strategy and serology were significant (22.2% v 7.2%, p<0.001). Relatives with Marsh I and Marsh II–III were more often symptomatic (56.3% and 53.8%, respectively) than relatives with normal mucosa (21.1%; p = 0.002). Marsh I relatives had more severe abdominal pain (p = 0.006), severe distension (p = 0.047) and anaemia (p = 0.038) than those with Marsh 0. The prevalence of abnormal bone mineral density was similar in relatives with Marsh I (37%) and Marsh III (44.4%).
Conclusions: The high number of symptomatic patients with lymphocytic enteritis (Marsh I) supports the need for a strategy based on human leucocyte antigen-DQ2 genotyping followed by duodenal biopsy in relatives of patients with coeliac disease and modifies the current concept that villous atrophy is required to prescribe a gluten-free diet.
- BMD, bone mineral density
- EmA, endomysial antibodies
- GFD, gluten-free diet
- GSE, gluten-sensitive enteropathy
- HLA, human leucocyte antigen
- IEL, intraepithelial lymphocytes
- PCR, polymerase chain reaction
- t-TGA, tissue transglutaminase antibodies
- VAS, visual analogue scale
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Published Online First 18 May 2006
Funding: This study was supported by a grant of the ‘Fundació Banc de Sabadell’ (Barcelona, Spain).
Competing interests: None declared.
Ethical approval: The study was approved by the research and ethical committees of the participant hospitals.
Other members of the Barcelona Coeliac Disease Study Group are Miquel Carreras, Roger Garcia, Department of Pediatry, Hospital Mútua de Terrassa, Fundació per la Recerca Mutua de Terrassa, Universitat de Barcelona, Terrassa, Catalonia, Spain; Jaume Casalots, Clara Isabel González-Mínguez, Department of Pathology, Hospital Universitari Mútua de Terrassa, Fundació per la Recerca Mutua de Terrassa, Universitat de Barcelona, Terrassa, Catalonia, Spain; Elena Monzón, Department of Internal Medicine, Hospital Mútua de Terrassa, Fundació per la Recerca Mutua de Terrassa, Universitat de Barcelona, Terrassa, Catalonia, Spain; Luís del Rio, Department of Nuclear Medicine, CTD-CTIR, Barcelona, Catalonia, Spain; Victòria Cusí, Department of Pathology, Hospital Sant Joan de Deu, Esplugues, Catalonia, Spain; Mercè Barenys, Department of Gastroenterology, Hospital Sant LLorenç de Viladecans, Viladecans, Catalonia, Spain.
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