Spectrum of gluten-sensitive enteropathy in first-degree relatives of patients with coeliac disease: clinical relevance of lymphocytic enteritis

• Published in: Gut 2006-12, Vol.55 (12), p.1739-1745
• Main Authors: Esteve, M, Rosinach, M, Fernández-Bañares, F, Farré, C, Salas, A, Alsina, M, Vilar, P, Abad-Lacruz, A, Forné, M, Mariné, M, Santaolalla, R, Espinós, J C, Viver, J M
• Format: Article
• Language: English
• Subjects: Abdomen; Adolescent; Adult; Aged; Antigens; Atrophy; Autoantibodies - immunology; Biological and medical sciences; Biomarkers - blood; Biopsy; BMD; Bone Density - physiology; bone mineral density; Celiac disease; Celiac Disease - diagnosis; Celiac Disease - immunology; Celiac Disease - pathology; Child; Child, Preschool; Coeliac Disease; Duodenum - pathology; EmA; endomysial antibodies; Enteritis; Enteritis - diagnosis; Enteritis - genetics; Enteritis - pathology; Family Health; Family Relations; Female; Gastroenterology; Gastroenterology. Liver. Pancreas. Abdomen; GFD; Gluten; gluten-free diet; gluten-sensitive enteropathy; GSE; Heredity; HLA; HLA-DQ Antigens - immunology; human leucocyte antigen; Humans; IEL; Immunoglobulins; Infant; Insomnia; intraepithelial lymphocytes; Lymphocytes - immunology; Malaltia celíaca; Male; Medical sciences; Middle Aged; Other diseases. Semiology; Pain; PCR; polymerase chain reaction; Severity of Illness Index; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus; t-TGA; tissue transglutaminase antibodies; Transglutaminases - immunology; VAS; visual analogue scale
• ISSN: 0017-5749; 1468-3288
• DOI: 10.1136/gut.2006.095299

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