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Phys Written Answersgastrointestinal

Phys Written Answers · gastrointestinal

Malabsorption and Small Bowel Disease — Written Clinical Reasoning

DCE long-case preparation: structured written reasoning for malabsorption and small bowel disease — the three-level pathophysiology (luminal, mucosal, transport), the diagnostic pathway using anaemia type to localise disease site (microcytic iron from proximal small bowel, macrocytic B12 or folate from terminal ileum), coeliac disease (anti-tTG IgA with total IgA, duodenal Marsh classification, gluten-free diet, refractory disease type 1 and type 2, EATL risk), Whipple disease (Tropheryma whipplei, PAS-positive macrophages, CSF-penetrating antibiotics), bile salt malabsorption (SeHCAT, cholestyramine), SIBO (risk factors, rifaximin), and short bowel syndrome (teduglutide, GLP-2).

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FRACP DCEMRCP Part 2
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Target exams

FRACP DCEMRCP Part 2
Prompt
DCE long-case preparation: structured written reasoning for malabsorption and small bowel disease — the three-level pathophysiology (luminal, mucosal, transport), the diagnostic pathway using anaemia type to localise disease site (microcytic iron from proximal small bowel, macrocytic B12 or folate from terminal ileum), coeliac disease (anti-tTG IgA with total IgA, duodenal Marsh classification, gluten-free diet, refractory disease type 1 and type 2, EATL risk), Whipple disease (Tropheryma whipplei, PAS-positive macrophages, CSF-penetrating antibiotics), bile salt malabsorption (SeHCAT, cholestyramine), SIBO (risk factors, rifaximin), and short bowel syndrome (teduglutide, GLP-2).

Malabsorption and Small Bowel Disease — Written Clinical Reasoning

Part A — Diagnosis

The diagnosis is coeliac disease, established by the combination of:

  1. Compatible clinical features (weight loss, chronic diarrhoea, and iron deficiency anaemia).
  2. Positive serology — anti-tTG IgA at 14 times the upper limit of normal and anti-endomysial IgA positive, with a normal total IgA (1.2 grams per litre), excluding selective IgA deficiency.
  3. Diagnostic duodenal histology — Marsh 3c total villous atrophy with crypt hyperplasia and increased intraepithelial lymphocytes (45 per 100 enterocytes, above the threshold of 30). [1]

The microcytic iron deficiency anaemia (MCV 71, ferritin 4) is the expected consequence of proximal small bowel disease: iron is absorbed predominantly in the duodenum, the site most affected by coeliac enteropathy. Iron deficiency anaemia is in fact the single most common adult presentation of coeliac disease [1]. The pruritic vesicular rash on extensor surfaces is dermatitis herpetiformis, the cutaneous manifestation of coeliac disease, which would show granular IgA deposition at the dermoepidermal junction on skin biopsy [1].

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References8ShowHide
  1. [1]Ludvigsson JF, Bai JC, Biagi F, et al. Diagnosis and management of adult coeliac disease: guidelines from the British Society of Gastroenterology Gut, 2014.PMID 24917550
  2. [2]Rubio-Tapia A, Hill ID, Kelly CP, et al. ACG clinical guidelines: diagnosis and management of celiac disease Am J Gastroenterol, 2013.PMID 23609613
  3. [3]Malamut G, Cellier C Refractory Celiac Disease Gastroenterol Clin North Am, 2019.PMID 30711206
  4. [4]Delabie J, Holte H, Vose JM, et al. Enteropathy-associated T-cell lymphoma: clinical and histological findings from the international peripheral T-cell lymphoma project Blood, 2011.PMID 21566094
  5. [5]Schneider T, Moos V, Loddenkemper C, et al. Whipple's disease: new aspects of pathogenesis and treatment Lancet Infect Dis, 2008.PMID 18291339
  6. [6]Bures J, Cyrany J, Kohoutova D, et al. Small intestinal bacterial overgrowth syndrome World J Gastroenterol, 2010.PMID 20572300
  7. [7]Walters JR, Pattni SS Managing bile acid diarrhoea Ther Adv Gastroenterol, 2010.PMID 21180614
  8. [8]Jeppesen PB, Gilroy R, Pertkiewicz M, et al. Randomised placebo-controlled trial of teduglutide in reducing parenteral nutrition and/or intravenous fluid requirements in patients with short bowel syndrome Gut, 2011.PMID 21317170
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