Celiac disease

On this page

Pathophysiology & Genetics - Gluten's Gut Grudge

  • Genetic Predisposition: Over 95% of patients have HLA-DQ2 or HLA-DQ8 haplotypes. This is necessary but not sufficient for disease development.
  • Pathogenesis:
    • Trigger: Gliadin, a component of gluten, is resistant to degradation.
    • Key Enzyme: Tissue transglutaminase (tTG) deamidates gliadin, increasing its immunogenicity.
    • Immune Cascade: Antigen-presenting cells (APCs) present deamidated gliadin on HLA-DQ2/8 molecules to CD4+ T-cells, initiating a Th1-mediated inflammatory response.
    • Result: Leads to characteristic small bowel findings: villous atrophy, crypt hyperplasia, and ↑ intraepithelial lymphocytes.

Celiac Disease: Histopathology and Endoscopy

⭐ Dermatitis herpetiformis, an intensely pruritic papulovesicular rash on extensor surfaces, is a pathognomonic skin manifestation caused by IgA deposition in the dermal papillae.

Clinical Presentation - The Celiac Chameleon

  • Classic GI (Malabsorptive): Chronic diarrhea, steatorrhea, weight loss, bloating, abdominal distension.
  • Atypical (Extra-intestinal): More common in adults.
    • Dermatologic: Dermatitis herpetiformis (pruritic papulovesicles on extensor surfaces).
    • Hematologic: Refractory iron deficiency anemia, folate deficiency.
    • Skeletal: ↓ bone mineral density, osteomalacia, osteoporosis.
    • Neurologic: Peripheral neuropathy, cerebellar ataxia.
    • Reproductive: Infertility, recurrent fetal loss.

Dermatitis herpetiformis rash and IgA deposits

⭐ Celiac disease is strongly associated with other autoimmune conditions, especially Type 1 Diabetes and autoimmune thyroiditis (Hashimoto's).

Diagnosis - Catching the Culprit

  • Initial Screening:
    • IgA anti-tissue transglutaminase (tTG) antibody is the single best serologic test.
    • If suspicion is high despite negative IgA tTG, check for selective IgA deficiency. If present, order IgG-based tests (e.g., IgG-DGP).
  • Gold Standard:
    • Small bowel biopsy (duodenal) is required for confirmation.
    • 📌 VACIng the gut: Villous Atrophy, Crypt hyperplasia, Intraepithelial lymphocytosis.
  • Genetic Testing:
    • HLA-DQ2/DQ8 testing has a >99% negative predictive value. Useful to rule out the disease.

Celiac disease histopathology: normal vs. villous atrophy

⭐ Dermatitis herpetiformis (pruritic papules/vesicles on extensor surfaces) is pathognomonic. A skin biopsy showing granular IgA deposits at the dermal-epidermal junction can confirm the diagnosis without needing an intestinal biopsy.

Management & Complications - Dodging the Dough

  • Primary Treatment: Lifelong, strict gluten-free diet (GFD).

    • Avoid wheat, barley, rye. 📌 Mnemonic: Barely Reaching Wheat.
    • Permitted: Rice, corn, soy, potatoes.
  • Nutritional Support: Correct deficiencies at diagnosis.

    • Commonly supplement iron, folate, vitamin B12, calcium, and vitamin D.
  • Monitoring: Follow-up with serology (tTG-IgA) to ensure dietary adherence and intestinal healing.

  • Complications of Untreated/Refractory Disease:

    • Anemia (iron deficiency), osteoporosis.
    • Dermatitis Herpetiformis: Pruritic papules/vesicles on extensor surfaces.
    • Malignancy: Increased risk of small bowel adenocarcinoma & Enteropathy-Associated T-cell Lymphoma (EATL).

⭐ EATL is a rare but aggressive T-cell lymphoma of the small intestine; it is a feared complication almost exclusively seen in celiac disease.

High‑Yield Points - ⚡ Biggest Takeaways

  • Celiac disease is an autoimmune disorder triggered by gliadin in genetically susceptible individuals, primarily those with HLA-DQ2/DQ8.
  • The most specific and sensitive initial test is IgA anti-tissue transglutaminase (tTG) antibody.
  • The gold standard for diagnosis is a small bowel biopsy showing villous atrophy, most prominent in the duodenum.
  • Strongly associated with dermatitis herpetiformis, a pruritic papulovesicular rash.
  • Management is a strict, lifelong gluten-free diet.

Practice Questions: Celiac disease

Test your understanding with these related questions

A 35-year-old Caucasian female presents with anemia, malaise, bloating, and diarrhea. Past genetic testing revealed that this patient carries the HLA-DQ2 allele. The physician suspects that the patient's presentation is dietary in cause. Which of the following findings would definitively confirm this diagnosis?

1 of 5

Flashcards: Celiac disease

1/10

What is the treatment for celiac disease? _____

TAP TO REVEAL ANSWER

What is the treatment for celiac disease? _____

Gluten-free diet

browseSpaceflip

Enjoying this lesson?

Get full access to all lessons, practice questions, and more.

Start Your Free Trial