Gastroenterology and hepatology for AMC MCQ

A 32 year old woman has 18 months of intermittent diarrhoea, bloating, tiredness and 6 kg of weight loss, and is found to have iron deficiency anaemia despite normal periods. She is still eating a normal diet. Her tissue transglutaminase IgA is strongly positive with a normal total IgA, and duodenal biopsy shows villous atrophy. What is the most likely diagnosis?

1. Inflammatory bowel disease (including Crohn disease, ulcerative colitis) Diarrhoea with inflammation and systemic features. Malabsorption with iron deficiency, positive transglutaminase and villous atrophy on a normal diet points to it.
2. Chronic pancreatitis Steatorrhoea from pancreatic insufficiency. Malabsorption with iron deficiency, positive transglutaminase and villous atrophy on a normal diet makes it worth excluding.
3. Giardiasis Chronic diarrhoea and malabsorption after exposure. Malabsorption with iron deficiency, positive transglutaminase and villous atrophy on a normal diet makes it a consideration.
4. Iron deficiency from another cause Anaemia without a bowel source. Malabsorption with iron deficiency, positive transglutaminase and villous atrophy on a normal diet makes it worth considering.
5. Coeliac disease correct Correct. Malabsorption with iron deficiency, strongly positive transglutaminase and villous atrophy while eating gluten is coeliac disease.

The point: Coeliac disease is an immune reaction to gluten that damages the small bowel mucosa, and it is far commoner and more varied than the classic picture suggests. It can present with diarrhoea, bloating, weight loss and steatorrhoea, but also with iron, folate or vitamin deficiency, unexplained anaemia, fatigue, mouth ulcers, an itchy blistering rash called dermatitis herpetiformis, osteoporosis, or simply abnormal liver enzymes, and in children with faltering growth. Testing must be done while the patient is still eating gluten, because a gluten-free diet normalises the results. The first-line test is serology, tissue transglutaminase IgA with a total IgA to detect deficiency, and a positive result is confirmed by duodenal biopsy showing villous atrophy. Associated conditions include type 1 diabetes and autoimmune thyroid disease, and there is an increased risk of small bowel lymphoma in untreated disease. Treatment is a lifelong strict gluten-free diet, which resolves symptoms and reduces the long-term risks, with correction of deficiencies, a bone density assessment and dietitian support. Serology is used to monitor adherence. First-degree relatives should be offered testing.

Source: Therapeutic Guidelines (Australia) — Gastrointestinal: coeliac disease Therapeutic Guidelines (Australia) · tier 3, national formulary

A 32 year old woman has 18 months of intermittent diarrhoea, bloating, tiredness and 6 kg of weight loss, and is found to have iron deficiency anaemia despite normal periods. She is still eating a normal diet. Her tissue transglutaminase IgA is strongly positive with a normal total IgA, and duodenal biopsy shows villous atrophy. What is the most appropriate initial investigation?

1. Tissue transglutaminase IgA with total IgA while eating gluten The first-line serology. Malabsorption with iron deficiency, positive transglutaminase and villous atrophy on a normal diet makes it central.
2. Serology to monitor dietary adherence Over follow-up. Malabsorption with iron deficiency, positive transglutaminase and villous atrophy on a normal diet makes it discriminating.
3. Bone density assessment For osteoporosis risk. Malabsorption with iron deficiency, positive transglutaminase and villous atrophy on a normal diet makes it worthwhile.
4. Confirm gluten is still in the diet before testing Or the tests normalise. Malabsorption with iron deficiency, positive transglutaminase and villous atrophy on a normal diet makes it necessary.
5. Duodenal biopsy for villous atrophy correct Correct. The biopsy showing villous atrophy confirms the diagnosis after positive serology.

The point: Coeliac disease is an immune reaction to gluten that damages the small bowel mucosa, and it is far commoner and more varied than the classic picture suggests. It can present with diarrhoea, bloating, weight loss and steatorrhoea, but also with iron, folate or vitamin deficiency, unexplained anaemia, fatigue, mouth ulcers, an itchy blistering rash called dermatitis herpetiformis, osteoporosis, or simply abnormal liver enzymes, and in children with faltering growth. Testing must be done while the patient is still eating gluten, because a gluten-free diet normalises the results. The first-line test is serology, tissue transglutaminase IgA with a total IgA to detect deficiency, and a positive result is confirmed by duodenal biopsy showing villous atrophy. Associated conditions include type 1 diabetes and autoimmune thyroid disease, and there is an increased risk of small bowel lymphoma in untreated disease. Treatment is a lifelong strict gluten-free diet, which resolves symptoms and reduces the long-term risks, with correction of deficiencies, a bone density assessment and dietitian support. Serology is used to monitor adherence. First-degree relatives should be offered testing.

Source: Therapeutic Guidelines (Australia) — Gastrointestinal: coeliac disease Therapeutic Guidelines (Australia) · tier 3, national formulary

A 32 year old woman has 18 months of intermittent diarrhoea, bloating, tiredness and 6 kg of weight loss, and is found to have iron deficiency anaemia despite normal periods. She is still eating a normal diet. Her tissue transglutaminase IgA is strongly positive with a normal total IgA, and duodenal biopsy shows villous atrophy. What is the most appropriate next step in management?

1. Do not start a gluten-free diet before testing Or the diagnosis is missed. Malabsorption with iron deficiency, positive transglutaminase and villous atrophy on a normal diet makes it a rule.
2. Assess for associated autoimmune disease Thyroid and diabetes. Malabsorption with iron deficiency, positive transglutaminase and villous atrophy on a normal diet makes it thorough.
3. Correct iron, folate and vitamin deficiencies For the malabsorption. Malabsorption with iron deficiency, positive transglutaminase and villous atrophy on a normal diet makes it supportive.
4. Lifelong strict gluten-free diet correct Correct. A lifelong strict gluten-free diet is the definitive treatment.
5. Dietitian referral and education A dietitian supports a sustainable and complete gluten-free diet, and malabsorption with iron deficiency, positive transglutaminase and villous atrophy on a normal diet here points elsewhere.

The point: Coeliac disease is an immune reaction to gluten that damages the small bowel mucosa, and it is far commoner and more varied than the classic picture suggests. It can present with diarrhoea, bloating, weight loss and steatorrhoea, but also with iron, folate or vitamin deficiency, unexplained anaemia, fatigue, mouth ulcers, an itchy blistering rash called dermatitis herpetiformis, osteoporosis, or simply abnormal liver enzymes, and in children with faltering growth. Testing must be done while the patient is still eating gluten, because a gluten-free diet normalises the results. The first-line test is serology, tissue transglutaminase IgA with a total IgA to detect deficiency, and a positive result is confirmed by duodenal biopsy showing villous atrophy. Associated conditions include type 1 diabetes and autoimmune thyroid disease, and there is an increased risk of small bowel lymphoma in untreated disease. Treatment is a lifelong strict gluten-free diet, which resolves symptoms and reduces the long-term risks, with correction of deficiencies, a bone density assessment and dietitian support. Serology is used to monitor adherence. First-degree relatives should be offered testing.

Source: Therapeutic Guidelines (Australia) — Gastrointestinal: coeliac disease Therapeutic Guidelines (Australia) · tier 3, national formulary