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ZyraDoc #64 - October 04, 2026

#63

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#65

A 34-year-old female presents with a 1-year history of chronic non-bloody diarrhea, abdominal bloating, flatulence, fatigue, and an unintentional 8 kg weight loss despite an adequate appetite.

On physical examination, she exhibits mild temporal wasting, conjunctival pallor, severe aphthous stomatitis, and an intensely pruritic papulovesicular rash over her extensor elbows and knees (dermatitis herpetiformis).

Serologic testing reveals markedly elevated IgA anti-tissue transglutaminase (anti-tTG) antibodies (>100 U/mL), and endoscopic duodenal biopsy demonstrates severe villous atrophy, crypt hyperplasia, and intraepithelial lymphocytosis (Marsh type 3c), confirming Celiac Disease.

Case Summary

Clinical Focus:

  • The diagnosis is Celiac Disease (Gluten-Sensitive Enteropathy), an autoimmune enteropathy triggered by ingested gluten in genetically susceptible individuals.

Aetiology/Cause:

  • Immune-mediated mucosal response triggered by dietary gluten proteins (gliadin) present in wheat, rye, and barley.
  • Strong genetic association with Human Leukocyte Antigen (HLA) class II heterodimers HLA-DQ2 (90-95%) and HLA-DQ8 (5-10%).
  • Tissue transglutaminase (tTG) deamidates gliadin peptides, creating negatively charged epitopes that bind strongly to HLA-DQ2/DQ8, stimulating CD4+ T-cell activation and CD8+ intraepithelial lymphocyte-mediated destruction of small intestinal mucosa.

Clinical Features:

  • Gastrointestinal manifestations: chronic diarrhea, steatorrhea, abdominal distension, flatulence, recurrent abdominal pain, and weight loss.
  • Extraintestinal manifestations: iron-deficiency anemia refractory to oral iron, fatigue, osteopenia/osteoporosis (vitamin D malabsorption), delayed puberty, and recurrent aphthous stomatitis.
  • Dermatologic manifestation: Dermatitis Herpetiformis—an intensely pruritic, vesicular skin eruption on extensor surfaces (elbows, knees, buttocks) caused by IgA deposits at dermal papillae.

Diagnosis and Investigations:

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