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A 32-year-old woman presents with a six-month history of loose, pale, foul-smelling stools that are difficult to flush, a 6 kg weight loss, fatigue and mouth ulcers. She has a history of type 1 diabetes and autoimmune hypothyroidism. On examination she is pale, with glossitis, angular cheilitis and an itchy vesicular rash over her elbows and knees. Bloods: Hb 92 g/L, MCV 76 fL, ferritin 6 ug/L, folate normal, calcium 2.05 mmol/L, albumin 32 g/L, 25-hydroxyvitamin D low. Anti-tissue transglutaminase IgA is markedly raised at 110 U/mL (reference under 20); total serum IgA is normal.
Questions
a) What is the most likely diagnosis, and name the skin lesion? (2 marks)
b) Outline the further investigation required to confirm the diagnosis, including the key histological findings and their classification. (3 marks)
c) Describe the definitive management, with specific dietary and supplementation measures. (3 marks)
d) List four complications of untreated disease, and state which malignancy is particularly associated with it. (2 marks)
Model Answers
a) Coeliac disease — autoimmune enteropathy triggered by gluten, associated with type 1 diabetes and autoimmune hypothyroidism. The skin lesion is dermatitis herpetiformis (intensely itchy grouped vesicles on extensor surfaces), which is virtually pathognomonic and resolves on a gluten-free diet.
b) Although serology is strongly positive, the gold-standard confirmation is upper GI endoscopy with duodenal biopsies — take 4-6 biopsies from the distal duodenum and 1-2 from the bulb (biopsy MUST precede any gluten-free diet). Histology is graded by the Marsh classification: Marsh I intraepithelial lymphocytosis, Marsh II crypt hyperplasia, Marsh III villous atrophy (partial/subtotal/total). Coeliac typically shows villous atrophy, crypt hyperplasia and intraepithelial lymphocytosis. Add HLA-DQ2/DQ8 (rules out if negative), DEXA at diagnosis (osteoporosis risk), and screen for iron/B12/folate, calcium/vitamin D and thyroid. (In selected high-titre cases the no-biopsy pathway may apply, but biopsy remains standard.)
c) Lifelong strict gluten-free diet — exclude wheat, barley and rye (pure uncontaminated oats tolerated by most); dietitian referral and coeliac society support. Replete deficiencies: oral iron (or IV if intolerant), folate, calcium 1000-1200 mg/day and vitamin D (cholecalciferol loading then maintenance). DEXA with bisphosphonate if osteoporotic. Annual surveillance: FBC, iron/folate/B12, calcium, LFTs, TSH, coeliac serology; consider pneumococcal vaccination if hyposplenic. Emphasise adherence — serology and histology recover with a strict diet.
d) Complications of untreated disease: (1) iron/folate/B12-deficiency anaemia; (2) osteoporosis/osteomalacia; (3) infertility, recurrent miscarriage; (4) hyposplenism with infection risk. The classically associated malignancy is enteropathy-associated T-cell lymphoma (EATL); small-bowel adenocarcinoma is also increased. Untreated disease also carries a risk of refractory coeliac disease.