A 45-year-old man presents with chronic diarrhoea, weight loss and fatigue. Duodenal biopsy shows subtotal villous atrophy, crypt hyperplasia and increased intraepithelial lymphocytes (IEL >30/100 epithelial cells). Serum anti-tissue transglutaminase IgA is markedly elevated. He is started on a gluten-free diet (GFD) but after 12 months still has symptoms and elevated IELs on repeat biopsy. Which condition should be considered?
- A Refractory coeliac disease (RCD) ✓
- B Tropical sprue
- C Whipple's disease
- D Giardiasis
Explanation
Refractory coeliac disease (RCD) is defined as persistent or recurrent malabsorptive symptoms with villous atrophy despite strict adherence to a gluten-free diet for ≥12 months after excluding other causes and confirmed coeliac diagnosis. RCD type I has a normal IEL phenotype; RCD type II has aberrant IEL (CD3+CD8−CD103+ surface) and carries a high risk of enteropathy-associated T-cell lymphoma (EATL). Evaluation includes IEL immunophenotyping and T-cell receptor clonality testing. Treatment for RCD II includes open-capsule budesonide and consideration of cladribine or stem cell transplant.
Reference: Harrison's Principles of Internal Medicine, 21st ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.