A 37-year-old man presents with a 6-month history of general malaise and intermittent diarrhoea. His stools have varied between watery and occasionally more solid but foul-smelling and difficult to flush. He also frequently experiences abdominal distension and pain. He denies any history of rectal bleeding but has unintentionally lost 3 kg in weight over the past six months. He works as a business analyst and recently returned from a 3-month trip to Thailand. On examination, his abdomen is soft, and he has a normal rectal examination. He has a pruritic, vesicular rash on his elbows and buttocks.
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This gentleman has symptoms and signs consistent with a diagnosis of a malabsorption syndrome and has dermatitis herpetiformis present on his elbows and buttocks, making a diagnosis of coeliac disease most likely in this case.
A diagnosis of coeliac disease should be considered in any patient presenting with:
- Chronic or intermittent diarrhoea
- Sudden or unexpected weight loss
- Persistent or unexplained gastrointestinal symptoms, including nausea and vomiting
- Prolonged fatigue (‘tired all the time’)
- Recurrent abdominal pain, cramping or distension
- Unexplained iron-deficiency anaemia
Dermatitis herpetiformis is an intensely itchy, vesicular rash, typically present on the extensor surfaces of shoulders, elbows, buttocks and knees. It spares the mucosa. 90% of patients with dermatitis herpetiformis will have coeliac disease. Dermatitis herpetiformis is not associated with any other of the options listed above.
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The first-choice serological test for coeliac disease is IgA tissue transglutaminase (tTGA), with IgA endomysial antibodies currently used as a second-line test if the result of the tTGA test is equivocal.
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A positive serological test warrants a referral to a gastroenterologist for an intestinal biopsy to confirm or exclude the presence of celiac disease.
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