Introduction of coeliac disease:

Celiac disease is a chronic autoimmune disorder triggered by gluten intolerance in genetically susceptible individuals. It is a significant cause of chronic Diarrhea in children, particularly those over two years of age in North India1. This immune-mediated enteropathy results from an abnormal response to gluten, leading to small intestinal damage, malabsorption, and nutritional deficiencies.

With increasing awareness and improved diagnostic techniques, celiac disease in children is being recognized more frequently. Early diagnosis and a strict gluten-free diet are essential for managing the condition and preventing long-term complications.

Clinical Presentation:

The classic symptoms of celiac disease include:

• Gastrointestinal symptoms: Chronic diarrhea, abdominal distension, and failure to thrive10

• Growth abnormalities: Short stature, delayed puberty, and weight loss11

• Hematological manifestations: Iron deficiency anemia, dimorphic anemia unresponsive to oral iron therapy12

• Skeletal abnormalities: Rickets and osteopenia due to vitamin D and calcium malabsorption13

• Other findings: Loss of subcutaneous fat, clubbing, and other vitamin deficiencies14

A strong index of suspicion is crucial for early diagnosis, particularly in children with unexplained growth failure or refractory anemia15

Diagnosis of Celiac Disease:

The diagnosis is established through a combination of serological tests, endoscopic evaluation, and histological examination.

1. Serological Tests

• IgA anti-tissue transglutaminase (tTG) antibodies: Highly sensitive (92-100%) and specific (91-100%) for celiac disease in both children and adults16.

• IgA anti-endomysial antibodies (EMA): Equally specific but more technically demanding17

• Caveat: Serological tests alone should not be the sole basis for diagnosis due to possibilities of false positives, false negatives, and inter-laboratory variability18

2. Upper Gastrointestinal (GI) Endoscopy

• May show loss of duodenal folds or scalloping19

• Multiple biopsies (4-6) should be obtained from the duodenal bulb and second/third part of the duodenum to improve diagnostic accuracy20

3. Histopathological Examination

The characteristic histological changes in celiac disease include:

• Increased intraepithelial lymphocytes (>30 per 100 enterocytes)

• Crypt hyperplasia

• Partial to total villous atrophy

• Increased inflammatory infiltration in the lamina propria21

Diagnostic Criteria (ESPGHAN Guidelines)

According to the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN), the diagnosis of celiac disease requires:

1. Clinical symptoms suggestive of celiac disease.

2. Histological confirmation with characteristic small intestinal biopsy changes (with or without positive serology).

3. Definitive clinical response to a gluten-free diet (GFD) within 12 weeks22

A positive serological test strengthens the diagnosis, particularly in developing countries where other causes of villous atrophy, such as chronic infections and malnutrition, are prevalent23 

Management of Celiac Disease

The cornerstone of treatment is a strict, lifelong gluten-free diet (GFD) along with supportive measures:

• Nutritional supplementation: Correction of iron, folate, vitamin D, and other deficiencies24

• Regular follow-up:

  • At 3 months, to assess symptom relief and improvement in weight and height gain25

  • Continuous dietary counseling to ensure adherence and prevent long-term complications26

Conclusion of coeliac disease:

Celiac disease is a significant but often underdiagnosed condition in children. Early recognition, timely diagnosis, and strict adherence to a gluten-free diet are crucial for effective management. Screening of high-risk populations and ongoing patient education are essential for long-term health outcomes. 

References

1.     Ghai OP, Paul VK, Bagga A. Essential Pediatrics. 10th ed. New Delhi: CBS Publishers; 2023. p. 398-402.

2.     Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Nelson Textbook of Pediatrics. 21st ed. Philadelphia: Elsevier; 2020. p. 2051-2055.

3.     Hockenberry MJ, Wilson D, Rodgers CC. Wong’s Essentials of Pediatric Nursing. 10th ed. St. Louis: Elsevier; 2017. p. 1121-1124.

4.     Ivarsson A, Myléus A, Norström F, van der Pals M, Rosen A, Högberg L, et al. Prevalence of childhood celiac disease and changes in incidence over time: a multicenter study. JAMA Pediatr. 2013;167(7):608-13.

5.     Ludvigsson JF, Green PH. The role of human leukocyte antigen (HLA) in celiac disease. Nat Rev Gastroenterol Hepatol. 2020;17(10):601-13.

6.     Bonamico M, Pasquino AM, Mariani P, Fanciulli G, Graziani MG, Mazzilli MC, et al. Prevalence and clinical picture of celiac disease in Turner syndrome. J Clin Endocrinol Metab. 2002;87(12):5495-8.

7.     Granito A, Muratori P, Muratori L, Pappas G, Cassani F, Gionchetti P, et al. Celiac disease in patients with autoimmune hepatitis. Dig Liver Dis. 2004;36(8):589-92.

8.     Zollner JP, Schmiedeke E, Zimmer KP, Koletzko S, Troncone R. Williams-Beuren syndrome and celiac disease. J Pediatr Gastroenterol Nutr. 2019;69(5):e104.

9.     Auricchio R, Tosco A, Piccolo E, Galatola M, Izzo V, Maglio M, et al. Potential celiac disease in at-family-risk children: to biopsy or not to biopsy? J Pediatr Gastroenterol Nutr. 2016;62(1):150-3.

10.  Fasano A, Catassi C. Clinical practice. Celiac disease. N Engl J Med. 2012;367(25):2419-26.

11.  Lebwohl B, Sanders DS, Green PH. Coeliac disease. Lancet. 2018;391(10115):70-81.

12.  Murray JA, Rubio-Tapia A. Diarrhea due to small bowel diseases. Gastroenterol Clin North Am. 2012;41(3):677-96.

13.  Ludvigsson JF, Leffler DA, Bai JC, Biagi F, Fasano A, Green PH, et al. The Oslo definitions for coeliac disease and related terms. Gut. 2013;62(1):43-52.

14.  Husby S, Koletzko S, Korponay-Szabó IR, Mearin ML, Phillips A, Shamir R, et al. European Society for Pediatric Gastroenterology, Hepatology, and Nutrition guidelines for the diagnosis of coeliac disease. J Pediatr Gastroenterol Nutr. 2012;54(1):136-60.

15.  Catassi C, Gatti S, Fasano A. The new epidemiology of celiac disease. J Pediatr Gastroenterol Nutr. 2014;59 Suppl 1:S7-9.

16.  Lionetti E, Catassi C. The role of environmental factors in the development of celiac disease: what is new? Eur J Pediatr. 2015;174(8):1027-34.

17.  Nenna R, Petrarca L, Bonamico M. At-risk populations for celiac disease. J Pediatr Gastroenterol Nutr. 2015;60(6):842-3.

18.  Silvester JA, Graff LA, Rigaux L, Walker JR, Duerksen DR. Symptomatic suspected gluten exposure is common among patients with coeliac disease on a gluten-free diet. Aliment Pharmacol Ther. 2016;44(6):612-9.

19.  Leonard MM, Sapone A, Catassi C, Fasano A. Celiac disease and nonceliac gluten sensitivity: a review. JAMA. 2017;318(7):647-56.

20.  Rubio-Tapia A, Ludvigsson JF, Brantner TL, Murray JA, Everhart JE. The prevalence of celiac disease in the United States. Am J Gastroenterol. 2012;107(10):1538-44.

21.  Singh P, Arora A, Strand TA, Leffler DA, Catassi C, Green PH, et al. Global prevalence of celiac disease: systematic review and meta-analysis. Clin Gastroenterol Hepatol. 2018;16(6):823-36.e2.

22.  Mäki M, Mustalahti K, Kokkonen J, Kulmala P, Haapalahti M, Karttunen T, et al. Prevalence of celiac disease among children in Finland. N Engl J Med. 2003;348(25):2517-24.

23.  Choung RS, Unalp-Arida A, Ruhl CE, Brantner TL, Everhart JE, Murray JA. Less hidden celiac disease but increased gluten avoidance without a diagnosis in the United States: findings from the National Health and Nutrition Examination Surveys from 2009 to 2014. Mayo Clin Proc. 2017;92(1):30-8.

24.  Reilly NR, Green PH. Epidemiology and clinical presentations of celiac disease. Semin Immunopathol. 2012;34(4):473-8.

25.  Guandalini S, Assiri A. Celiac disease: a review. JAMA Pediatr. 2014;168(3):272-8.

Interactive quiz session: