Paeds · gastroenterology-hepatology-and-nutrition
Coeliac disease
Also known as Coeliac disease · Celiac disease · Gluten-sensitive enteropathy · Gluten enteropathy · Coeliac sprue · Non-tropical sprue
Fellowship guide to coeliac disease in children: the immune-mediated small-bowel enteropathy triggered by gluten in genetically susceptible people, the classic and non-classic presentations from the wasted toddler with a distended abdomen to the adolescent with short stature or refractory iron-deficiency anaemia, the HLA-DQ2 and DQ8 genetic background, the immunoglobulin A anti-tissue-transglutaminase-first serological workup with total immunoglobulin A to exclude deficiency, the Marsh histology, the ESPGHAN 2020 no-biopsy pathway requiring a titre at or above ten times the upper limit of normal plus positive endomysial antibody on a separate sample, the gluten-on-board rule, and the lifelong strict gluten-free diet with dietitian support and monitoring.
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- A child with persistent diarrhoea, faltering growth or weight loss, a distended abdomen with wasted buttocks, iron-deficiency anaemia refractory to oral iron, delayed puberty, aphthous mouth ulcers or dental enamel defects has coeliac disease until proven otherwise and needs coeliac serology taken on a gluten-containing diet
- Selective immunoglobulin A deficiency occurs in roughly two to three per cent of children with coeliac disease and renders immunoglobulin A-based serology falsely negative; a total immunoglobulin A must always accompany the anti-tissue-transglutaminase test
- Coeliac serology taken after gluten has already been withdrawn is uninterpretable because the antibodies normalise within weeks on a gluten-free diet; never start a gluten-free diet before the diagnostic tests are complete
- Coeliac crisis, though rare, is a medical emergency: profuse diarrhoea, dehydration, hypokalaemia, metabolic acidosis and hypoproteinaemia in a severely malnourished child need intravenous fluids, electrolyte correction, nutritional support and sometimes a short course of corticosteroids
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- Coeliac disease
- Coeliac disease: pathogenesis, the ESPGHAN 2020 diagnostic pathway, and the gluten-free diet
- Coeliac disease: the no-biopsy pathway, the gluten-on-board rule, and the workup of refractory iron-deficiency anaemia
- Short case: the child with faltering growth and a distended abdomen
- Long case: the adolescent with coeliac disease, type 1 diabetes and dietary adherence
- Coeliac disease: pathophysiology, diagnosis, and management
- Gastroenterology: the child with coeliac disease and faltering growth
- Gastroenterology: coeliac disease in children
- Patient Care: coeliac disease in children
- Medical Expert: coeliac disease in children
Overview & Definition
Coeliac disease is a permanent, immune-mediated enteropathy of the small intestine triggered by gluten in genetically susceptible people, and it is one of the commonest chronic diseases of childhood once it is actively looked for. The whole task of the clinician is to recognise the child whose faltering growth, refractory anaemia, abdominal distension or persistent diarrhoea is the face of untreated coeliac disease, confirm the diagnosis with serology taken while the child is still eating gluten, and settle the family onto a strict lifelong gluten-free diet. [1]
Gluten is the alcohol-soluble protein fraction of wheat, barley and rye, and its gliadin component drives the immune injury. In a susceptible child, eaten gluten provokes an autoimmune response in the lamina propria that flattens the small-bowel mucosa, so that the tall, finger-like villi become ridges, the crypts lengthen, and the absorptive surface is lost. The result is malabsorption of iron, folate, calcium and fat-soluble vitamins, and the many clinical faces of the disease flow from that single lesion. [3]
The modern definition is broad. The Oslo definitions frame coeliac disease as a gluten-induced enteropathy with a variable clinical presentation, so the wasted toddler with diarrhoea is only the classic tip of an iceberg that also includes the school-age child with isolated short stature, the adolescent with iron deficiency that will not correct with oral iron, and the asymptomatic sibling picked up by screening. The unifying feature is a gluten-dependent small-bowel enteropathy that resolves on a gluten-free diet. [3]
References12ShowHide
- [1]Husby S; Koletzko S; Korponay-Szabó I; Kurppa K; Mearin ML; Ribes-Koninckx C European Society Paediatric Gastroenterology, Hepatology and Nutrition Guidelines for Diagnosing Coeliac Disease 2020. J Pediatr Gastroenterol Nutr, 2020.PMID 31568151
- [2]Husby S; Koletzko S; Korponay-Szabó IR; Mearin ML; Phillips A; Shamir R European Society for Pediatric Gastroenterology, Hepatology, and Nutrition guidelines for the diagnosis of coeliac disease. J Pediatr Gastroenterol Nutr, 2012.PMID 22197856
- [3]Ludvigsson JF; Leffler DA; Bai JC; Biagi F; Fasano A; Green PH The Oslo definitions for coeliac disease and related terms. Gut, 2013.PMID 22345659
- [4]Hill ID; Fasano A; Guandalini S; Hoffenberg E; Levy J; Reilly N NASPGHAN Clinical Report on the Diagnosis and Treatment of Gluten-related Disorders. J Pediatr Gastroenterol Nutr, 2016.PMID 27035374
- [5]Giersiepen K; Lelgemann M; Stuhldreher N; Ronfani L; Husby S; Koletzko S Accuracy of diagnostic antibody tests for coeliac disease in children: summary of an evidence report. J Pediatr Gastroenterol Nutr, 2012.PMID 22266486
- [6]Singh P; Arora A; Strand TA; Leffler DA; Catassi C; Green PH Global Prevalence of Celiac Disease: Systematic Review and Meta-analysis. Clin Gastroenterol Hepatol, 2018.PMID 29551598
- [7]Lionetti E; Castellaneta S; Francavilla R; Pulvirenti A; Tonutti E; Amarri S Introduction of gluten, HLA status, and the risk of celiac disease in children. N Engl J Med, 2014.PMID 25271602
- [8]Werkstetter KJ; Korponay-Szabó IR; Popp A; Villanacci V; Salemme M; Heilig G Accuracy in Diagnosis of Celiac Disease Without Biopsies in Clinical Practice. Gastroenterology, 2017.PMID 28624578
- [9]Elwenspoek MMC; Jackson J; O'Donnell R; Sinobas A; Dawson S; Everitt H The accuracy of diagnostic indicators for coeliac disease: A systematic review and meta-analysis. PLoS One, 2021.PMID 34695139
- [10]Crespo-Escobar P; Mearin ML; Hervás D; Auricchio R; Castillejo G; Gyimesi J The role of gluten consumption at an early age in celiac disease development: a further analysis of the prospective PreventCD cohort study. Am J Clin Nutr, 2017.PMID 28228423
- [11]Mearin ML; Agardh D; Antunes H; Al-Toma A; Auricchio R; Castillejo G ESPGHAN Position Paper on Management and Follow-up of Children and Adolescents With Celiac Disease. J Pediatr Gastroenterol Nutr, 2022.PMID 35758521
- [12]Ludvigsson JF; Montgomery SM; Ekbom A; Brandt L; Granath F Small-intestinal histopathology and mortality risk in celiac disease. JAMA, 2009.PMID 19755695