Celiac Disease

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Celiac Basics - Gluten's Gut Grudge

  • Chronic small intestinal immune-mediated enteropathy triggered by dietary gluten.
  • Genetic Susceptibility: Primarily HLA-DQ2 (90-95%) and HLA-DQ8 (5-10%).
  • Trigger: Gluten (gliadin protein) in Wheat, Rye, Barley. (📌 Mnemonic: Avoid B.R.O.W. - Barley, Rye, Oats*, Wheat. *Oats often contaminated).
  • Pathophysiology:
    • Ingested gluten (gliadin) is deamidated by tissue transglutaminase (tTG).
    • Deamidated gliadin presented by APCs (via HLA-DQ2/DQ8) to CD4+ T-cells.
    • Leads to mucosal inflammation: villous atrophy, crypt hyperplasia, ↑Intraepithelial Lymphocytes (IELs). Celiac disease histopathology with villous atrophy

⭐ Strongest genetic association is with HLA-DQ2.5.

Symptom Spectrum - The Celiac Chameleon

  • Gastrointestinal (GI) - Common in younger children:
    • Chronic diarrhea (steatorrhea: pale, foul, bulky stools)
    • Failure to Thrive (FTT), weight loss
    • Abdominal distension, pain, bloating
    • Vomiting, anorexia
    • Constipation (less common, may occur in older children)
  • Extra-intestinal Manifestations (EIMs) - "The Chameleon", esp. older children/adolescents:
    • Iron Deficiency Anemia (IDA) - often refractory to oral iron
    • Short stature, delayed puberty
    • Dermatitis Herpetiformis (DH) - intensely itchy vesicles (elbows, knees, buttocks)
    • Dental enamel defects (permanent dentition)
    • Recurrent aphthous stomatitis
    • Osteopenia/Osteoporosis, arthralgia
    • Elevated transaminases (unexplained)
  • Silent/Latent Celiac Disease:
    • Asymptomatic or minimal symptoms despite positive serology/histology.

⭐ Dermatitis herpetiformis is a highly specific skin manifestation; biopsy of unaffected perilesional skin shows granular IgA deposits at the dermoepidermal junction.

Celiac Disease Clinical Manifestations Pie Chart

Diagnostic Drill‑Down - Confirming Celiac

  • Initial Serology (on gluten diet):
    • IgA anti-tissue Transglutaminase (IgA-tTG) - preferred.
    • Total IgA (rule out IgA deficiency).
    • If IgA deficient: IgG-tTG, IgG-Deamidated Gliadin Peptide (DGP).
  • ESPGHAN Guidelines (2020) - Symptomatic Children:
    • IgA-tTG > 10x ULN: Confirm with IgA Endomysial Antibody (EMA) (2nd sample).
      • If both positive + HLA-DQ2/DQ8 positive (supportive) → Diagnosis without biopsy.
    • IgA-tTG < 10x ULN or EMA negative → Duodenal biopsy.
  • Duodenal Biopsy:
    • Gold standard; multiple samples (D2/D3, bulb).
    • Histopathology: Marsh-Oberhuber Classification.
      • Marsh 0: Normal.
      • Marsh I: ↑IELs (>25/100 enterocytes).
      • Marsh II: Crypt hyperplasia.
      • Marsh III (a,b,c): Villous atrophy (mild, marked, total).

    ⭐ Marsh IIIc (total villous atrophy) is classic in symptomatic celiac disease.

  • Genetic Testing:
    • HLA-DQ2/DQ8: High negative predictive value (rules out if negative). Marsh Classification of Celiac Disease Histology

Treatment & Troubles - Gluten‑Free & Beyond

  • Gluten-Free Diet (GFD): Cornerstone
    • Lifelong, strict: No Wheat, Rye, Barley, Oats (📌 WRBO: We Read Big Outs).
    • Safe: Rice, Corn, Millets, Soya, Potato.
    • Beware: Hidden gluten (processed foods, meds). Dietician vital.
  • Nutritional Support:
    • Correct deficiencies: Fe, Folate, B12, Vit D, Ca, Zn.
    • Lactose intolerance: Often transient.
  • Monitoring & Follow-up:
    • Clinical improvement: Weeks.
    • Serology (tTG-IgA): Normalizes in 6-12 months.
    • Assess growth & GFD adherence.
  • Troubles & Associations:
    • Persistent symptoms: Poor GFD adherence commonest.

      ⭐ Poor GFD adherence: #1 cause of non-response.

    • Refractory Celiac Disease (RCD): Rare.
    • Long-term risks: Osteoporosis, anemia, infertility, malignancy (EATL), autoimmune (T1DM, thyroiditis).
    • Vaccination: Pneumococcal (due to hyposplenism risk). Gluten-Free Food Guide for Children & Youth

High‑Yield Points - ⚡ Biggest Takeaways

  • Celiac disease: Immune reaction to gluten in genetically susceptible individuals (HLA-DQ2/DQ8).
  • Presents with chronic diarrhea, malabsorption, weight loss, or anemia; failure to thrive in children.
  • Dermatitis herpetiformis is a highly specific skin manifestation.
  • Serology: IgA anti-tTG is the preferred initial test; IgA EMA for confirmation.
  • Duodenal biopsy showing villous atrophy, crypt hyperplasia, and ↑IELs is diagnostic.
  • Lifelong strict gluten-free diet (GFD) is the only treatment.
  • Untreated: ↑ risk of lymphoma (e.g., EATL).

Practice Questions: Celiac Disease

Test your understanding with these related questions

A female engineer works for 12-14 hours a day and reports consuming only fast food, with no vegetables or fruits in her diet. Her hemoglobin (Hb) count is $9 \mathrm{~g} / \mathrm{dL}$, and her mean corpuscular volume (MCV) is 120 fL . Peripheral smear (PS) shows the presence of macrocytes. What is the most likely diagnosis?

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Flashcards: Celiac Disease

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_____tonic dehydration with acidosis is the most common finding in children with severe viral enteritis

TAP TO REVEAL ANSWER

_____tonic dehydration with acidosis is the most common finding in children with severe viral enteritis

Iso

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