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 Diarrhoea with body-wide signs of inflammation. But the picture of poor food absorption with low iron, a positive gluten blood test and gut damage while still eating a normal diet does not point to it.
2. Chronic pancreatitis Greasy, hard-to-flush stools because the pancreas is not making enough digestive juices. It does not fit the picture of poor food absorption with low iron, a positive gluten blood test and gut damage while still eating a normal diet.
3. Giardiasis Ongoing diarrhoea and poor absorption after contact with a gut parasite (Giardia). Here, the picture of poor food absorption with low iron, a positive gluten blood test and gut damage while still eating a normal diet points elsewhere.
4. Iron deficiency from another cause Low iron with no sign that it is coming from the gut. That does not match the picture of poor food absorption with low iron, a positive gluten blood test and gut damage while still eating a normal diet.
5. Coeliac disease correct Correct. Poor absorption with low iron, a strongly positive gluten blood test, and gut damage seen while she was still eating gluten, all point to coeliac disease.

The point: Coeliac disease happens when the immune system reacts to gluten, a protein in wheat, barley and rye. This reaction damages the lining of the small bowel (the gut). It is common, and it looks different in different people. Some people get diarrhoea, bloating, weight loss, or pale, greasy stools that are hard to flush away (steatorrhoea). Others just have low iron, low folate, or a low vitamin level, unexplained anaemia (a low blood count), tiredness, mouth ulcers, an itchy blistering rash called dermatitis herpetiformis, thin weak bones (osteoporosis), or abnormal liver blood tests. In children it can simply show up as poor growth. Testing must be done while the person is still eating gluten. If they stop gluten first, the tests can come back normal even though the disease is there. The first test is a blood test for an antibody called tissue transglutaminase IgA (tTG-IgA), plus a total IgA level to check the person is not IgA deficient. If that is positive, a small sample is taken from the first part of the bowel (a duodenal biopsy). This confirms the disease by showing damage to the finger-like folds that line the gut (villous atrophy). Coeliac disease is linked to type 1 diabetes and immune-driven thyroid disease. If it is left untreated, there is a small extra risk of a cancer of the small bowel called lymphoma. Treatment is a strict gluten-free diet for life. This clears the symptoms and lowers the long-term risks. Doctors also correct any deficiencies, check bone strength, and bring in a dietitian. Blood tests are repeated to check the person is really staying gluten-free. Close relatives should be offered testing too.

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. Lifelong strict gluten-free diet correct Correct. A strict gluten-free diet for life is the main treatment.
2. Bone protection and calcium and vitamin D Calcium and vitamin D protect the bones. But the picture of poor food absorption with low iron, a positive gluten blood test and gut damage while still eating a normal diet does not point to it.
3. Correct iron, folate and vitamin deficiencies Tops up iron, folate and other vitamins the gut has failed to absorb. It does not fit the picture of poor food absorption with low iron, a positive gluten blood test and gut damage while still eating a normal diet.
4. Test first-degree relatives Close family are offered testing, since coeliac disease can run in families. That does not match the picture of poor food absorption with low iron, a positive gluten blood test and gut damage while still eating a normal diet.
5. Do not start a gluten-free diet before testing Cutting out gluten before testing can make the disease get missed. Here, the picture of poor food absorption with low iron, a positive gluten blood test and gut damage while still eating a normal diet points elsewhere.

The point: Coeliac disease happens when the immune system reacts to gluten, a protein in wheat, barley and rye. This reaction damages the lining of the small bowel (the gut). It is common, and it looks different in different people. Some people get diarrhoea, bloating, weight loss, or pale, greasy stools that are hard to flush away (steatorrhoea). Others just have low iron, low folate, or a low vitamin level, unexplained anaemia (a low blood count), tiredness, mouth ulcers, an itchy blistering rash called dermatitis herpetiformis, thin weak bones (osteoporosis), or abnormal liver blood tests. In children it can simply show up as poor growth. Testing must be done while the person is still eating gluten. If they stop gluten first, the tests can come back normal even though the disease is there. The first test is a blood test for an antibody called tissue transglutaminase IgA (tTG-IgA), plus a total IgA level to check the person is not IgA deficient. If that is positive, a small sample is taken from the first part of the bowel (a duodenal biopsy). This confirms the disease by showing damage to the finger-like folds that line the gut (villous atrophy). Coeliac disease is linked to type 1 diabetes and immune-driven thyroid disease. If it is left untreated, there is a small extra risk of a cancer of the small bowel called lymphoma. Treatment is a strict gluten-free diet for life. This clears the symptoms and lowers the long-term risks. Doctors also correct any deficiencies, check bone strength, and bring in a dietitian. Blood tests are repeated to check the person is really staying gluten-free. Close relatives should be offered testing too.

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 definitive management?

1. Test first-degree relatives Close family are offered testing, since coeliac disease can run in families. It does not fit the picture of poor food absorption with low iron, a positive gluten blood test and gut damage while still eating a normal diet.
2. Bone protection and calcium and vitamin D Calcium and vitamin D protect the bones. That does not match the picture of poor food absorption with low iron, a positive gluten blood test and gut damage while still eating a normal diet.
3. Dietitian referral and education correct Correct. A dietitian helps her keep to a full, workable gluten-free diet.
4. Monitor adherence and symptoms Blood tests and symptoms are checked over time. But the picture of poor food absorption with low iron, a positive gluten blood test and gut damage while still eating a normal diet does not point to it.
5. Assess for associated autoimmune disease Checks for thyroid disease and diabetes. Here, the picture of poor food absorption with low iron, a positive gluten blood test and gut damage while still eating a normal diet points elsewhere.

The point: Coeliac disease happens when the immune system reacts to gluten, a protein in wheat, barley and rye. This reaction damages the lining of the small bowel (the gut). It is common, and it looks different in different people. Some people get diarrhoea, bloating, weight loss, or pale, greasy stools that are hard to flush away (steatorrhoea). Others just have low iron, low folate, or a low vitamin level, unexplained anaemia (a low blood count), tiredness, mouth ulcers, an itchy blistering rash called dermatitis herpetiformis, thin weak bones (osteoporosis), or abnormal liver blood tests. In children it can simply show up as poor growth. Testing must be done while the person is still eating gluten. If they stop gluten first, the tests can come back normal even though the disease is there. The first test is a blood test for an antibody called tissue transglutaminase IgA (tTG-IgA), plus a total IgA level to check the person is not IgA deficient. If that is positive, a small sample is taken from the first part of the bowel (a duodenal biopsy). This confirms the disease by showing damage to the finger-like folds that line the gut (villous atrophy). Coeliac disease is linked to type 1 diabetes and immune-driven thyroid disease. If it is left untreated, there is a small extra risk of a cancer of the small bowel called lymphoma. Treatment is a strict gluten-free diet for life. This clears the symptoms and lowers the long-term risks. Doctors also correct any deficiencies, check bone strength, and bring in a dietitian. Blood tests are repeated to check the person is really staying gluten-free. Close relatives should be offered testing too.

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