A 42-year-old man with diarrhoea and weight loss for 6 months is found to have subtotal villous atrophy on duodenal biopsy, positive anti-tissue transglutaminase IgA 58 U/mL, and positive anti-endomysial antibody. He is started on a gluten-free diet. After 12 months he remains symptomatic. Which is the most important next step?
- A Start azathioprine for refractory coeliac disease
- B Assess dietary adherence and screen for inadvertent gluten exposure ✓
- C Repeat duodenal biopsy and check for refractory coeliac disease Type II by flow cytometry
- D Test for lactase deficiency as a co-existing cause
Explanation
The most common cause of persistent symptoms in coeliac disease after dietary change is inadvertent gluten exposure; strict adherence should be assessed first (repeat serology, dietary review by a specialist dietitian). Only if serology normalises and symptoms persist despite strict GFD, or if histology fails to recover, should refractory coeliac disease (RCD) be suspected. Azathioprine and steroids are for confirmed RCD. Flow cytometry for aberrant T-cell phenotype distinguishes RCD Type I from Type II (enteropathy-associated T-cell lymphoma precursor). Lactase deficiency is relevant but secondary investigation.
Reference: Harrison's Principles of Internal Medicine, 21st ed.
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