A 50-year-old woman with longstanding celiac disease has poor response to a strict gluten-free diet. Duodenal biopsy shows villous atrophy (Marsh grade IIIc) with an aberrant intraepithelial lymphocyte (IEL) population expressing surface CD3 but lacking CD8 (clonal by TCR gene rearrangement). What is the diagnosis?

• A Refractory celiac disease type I (RCD I)
• B Collagenous sprue
• C EATL (Enteropathy-associated T-cell lymphoma) stage IV
• D Refractory celiac disease type II (RCD II) ✓

Explanation

Refractory celiac disease (RCD) is defined as persistent or recurrent malabsorptive symptoms with villous atrophy despite strict gluten-free diet for >12 months. RCD type II is characterised by a clonal abnormal IEL population with aberrant phenotype (surface CD3+, CD8−, intracytoplasmic CD3+) detected by immunohistochemistry or flow cytometry. RCD II carries a high risk (~50% at 5 years) of progressing to enteropathy-associated T-cell lymphoma (EATL). RCD I has phenotypically normal polyclonal IELs. Collagenous sprue has subepithelial collagen deposition.

Reference: Harrison's Principles of Internal Medicine, 21st ed.

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