Celiac Disease

• Core 1 (Pre-Clerkship)
  • Integrative Systems
    • Gastroenterology: Pediatric Tutorial Cases
• Core 2 (Clerkship)
  • Pediatric didactics: Nutrition didactic
• Core 3 (Post Clerkship) Electives that may further knowledge - Peds GI

*NOTE: May also be asymptomatic 

• Rarely can present as celiac crisis – acute onset and rapid progression of GI symptoms attributable to celiac disease that often progresses to multi-organ dysfunction 

• • Symptoms can include: severe dehydration, renal dysfunction, neurologic dysfunction, metabolic acidosis, abnormal electrolytes, hypoalbuminemia, weight loss, need for parenteral nutrition 

Serologic Evaluation 

• Criteria to test: MUST be on gluten-containing diet (ideally 3-6g of gluten for 8-12 weeks). Can consider gluten challenge if diagnosis needs to be made, but the child is already on a gluten-free diet. 

*Check with total IgA given higher prevalence of IgA deficiency with celiac disease. Low IgA can make IgA antibody testing falsely negative. Check tTG-IgG ab if low IgA. 

• If antibodies are positive, refer to pediatric gastroenterology for consideration of endoscopy. 

• Still refer to GI if high suspicion for celiac disease even if antibodies are negative 

• If on a gluten-free diet and unable to do gluten challenge, can consider HLA genetic testing. If HLA-DQ2/DQ8 negative, then celiac disease is unlikely. 

Endoscopic Evalution 

• Visual findings on endoscopy 

• • Can be visually normal, but findings may include scalloping of the small bowel, prominence of blood vessels, nodularity, flattening of the villi, and ulcers 

Endoscopic image of small intestinal mucosa with abnormal appearance consistent with celiac disease.

Histology Grading (Marsh Classification)

• • Celiac is patchy and needs an adequate number of biopsies for diagnosis
  • Marsh 3 is definitive for diagnosis of Celiac Disease
  • Degree of the villous atrophy does not necessarily correlate with severity of clinical symptoms 

Illustration of the Marsh classification for celiac disease and an endoscopic image showing abnormal small intestinal mucosa.

European Diagnostic Criteria 

• In North America, diagnosis of celiac disease requires positive biopsies 

• In Europe (ESPGHAN) criteria, diagnosis can be made on serologies alone 

• • tΤG-ΙgA >10 times the upper limit of normal and positive ЕΜA-ΙgΑ from a separate blood draw 

Management

• Strict, lifelong gluteո-free ԁiet is the only treatment for celiac disease 

• Treatment is should be guided by a dietician 

• Gluten is a protein found in wheat, barley, and rye 

• If products contain gluten, it is not required to be labelled as gluten containing 

• • Gluten free labelling is voluntary, not required 

• • Families must learn to read labels closely to identify gluten-containing ingredients 

• • Products that contain wheat are required to be labelled as it is one the top 9 food allergens, but this does not encompass all gluten containing foods. 

• Non-food items may contain gluten too (makeup, mouthwash, toothpaste, stamps, envelope glue, play dough, vitamins/medicines, etc). Anything that goes into the mouth must be gluten free! 

• Families are counselled to avoid cross contamination of gluten/non-gluten condiments and kitchen items 

• Diagnosis of celiac disease is made on biopsy from endoscopy
• Asymptomatic screening is indicated in certain high-risk individuals (first-degree relatives, Trisomy 21, Type 1 Diabetes, Williams Syndrome, Turner Syndrome, autoimmune thyroiditis)
  • First-degree relative of person with celiac disease
  • Other autoimmune disease: autoimmune thyroiditis, Type I DM
  • Genetic syndromes: Down syndrome, Turner Syndrome, Williams Syndrome
  • IgA deficiency
  • In many of these high-risk patients, asymptomatic screening is performed and may need to be repeated over time
• Mainstay of treatment is strict adherence to a gluten-free diet
• Celiac disease is an immune-mediated inflammatory disease in the small intestine in response to gluten
• Celiac disease is not an IgE mediated allergy, but rather an autoimmune disorder where gluten causes activation of an immune cascade resulting in damage to the intestines. 
• Occurs in genetically susceptible individuals that have HLA-DQ2 and/or HLA-DQ8 (these play a role in antigen presentation/immune system activation)  
• Prevalence is approximately 1:80 to 1:300 children (~1% of the population) 

Answers

Q1: EGD evaluation with biopsy findings of villous atrophy and crypt hypertrophy (Marsh 3 classification) 

Q2: Order tTG-IgG, since IgA deficiency may cause false-negative tTG-IgA results

Q3: HLA-DQ2 and/or HLA-DQ8 – involved in antigen presenting. If negative, risk of celiac disease is close to zero.

Q4: First-degree relatives, and children with Type 1 Diabetes, Down syndrome, Turner syndrome, Williams syndrome, autoimmune thyroiditis

Q5: tTG-IgA. High sensitivity/specificity; always check total IgA due to IgA deficiency risk.

Q6: tTG-IgA, total IgA, AND DGP-IgG (increased sensitivity in children < 2 years old)

Q7: What is the only effective treatment for celiac disease?

Q8: Dermatitis herpetiformis, dental enamel hypoplasia, liver disease, neurologic/behavioral changes (headaches, irritability, chronic fatigue)

Q9: No, it’s voluntary, so families must be counseled on how to read packaging. 

• Peds Cases Podcast – Celiac Disease Part 1 

• Peds Cases Podcase – Celiac Disease Part 2 

• NASPGHAN Celiac Disease Guidelines 

• ESPGHAN Celiac Disease Guidelines 

• Gluten free diet guide