Gastrointestinal and hepatology · Easy
This case is fictional and exists for study. It describes no real patient.
28 years · female
A 28-year-old female presents to her general practitioner complaining of a 6-month history of frequent, bulky, foul-smelling loose stools, abdominal bloating, and unintended weight loss of 4 kg. She reports persistent fatigue and lethargy. She has no significant past medical history and takes no regular medications. On physical examination, she appears pale. Abdominal examination reveals mild diffuse tenderness and abdominal distension without guarding or rebound tenderness. Digital rectal examination is unremarkable. Blood tests demonstrate microcytic anaemia with low ferritin levels. She remains on a normal diet containing wheat and barley products.
Vital signs
- HR
- 78 bpm
- BP
- 118/76 mmHg
- RR
- 14/min
- Temp
- 36.6 °C
- SpO₂
- 98%
Examination findings
- Conjunctival pallor
- Mild diffuse abdominal distension
- Mild generalised abdominal tenderness without peritonitis
Investigations
| Haemoglobin | 10.2 g/dL | reference: 12.0-15.5 |
| Mean Corpuscular Volume (MCV) | 74 fL | reference: 80-100 |
| Ferritin | 10 ug/L | reference: 15-200 |
Question 1 of 3
Which is the most appropriate initial serological test to screen for the suspected diagnosis?
Initial initial screening for coeliac disease requires anti-tissue transglutaminase (tTG) IgA antibodies along with total IgA levels (to rule out IgA deficiency, which can cause false-negative results). ANA is checked in autoimmune conditions like SLE. ASCA is associated with Crohn's disease. Fecal calprotectin is used to differentiate irritable bowel syndrome from inflammatory bowel disease.
Teaching point: First-line screening for coeliac disease in adults is serum anti-tTG IgA alongside total IgA while the patient is consuming gluten.
Question 2 of 3
If duodenal biopsies are subsequently performed, which histological feature is most characteristic of coeliac disease?
The classic histological findings of coeliac disease on endoscopic small bowel biopsy include villous atrophy, crypt hyperplasia, and increased intraepithelial lymphocytes (IELs). Non-caseating granulomas suggest Crohn's disease. PAS-positive macrophages are classic for Whipple's disease. Crypt abscesses are typical of ulcerative colitis.
Teaching point: Small intestinal biopsy in coeliac disease characteristically demonstrates villous atrophy, crypt hyperplasia, and increased intraepithelial lymphocytes.
Question 3 of 3
Once the diagnosis of coeliac disease is confirmed, which management intervention is most essential for long-term health?
The definitive treatment for coeliac disease is lifelong, complete adherence to a gluten-free diet, which allows duodenal mucosal healing and resolves malabsorption. Corticosteroids are reserved for rare refractory coeliac disease. Pancreatic enzymes treat exocrine pancreatic insufficiency, and antibiotics treat small intestinal bacterial overgrowth or infectious diarrhoea.
Teaching point: Lifelong strict exclusion of dietary gluten is the primary and definitive treatment for coeliac disease.
Key learning points
- Coeliac disease presents with features of malabsorption, including chronic diarrhoea, bloating, weight loss, and iron deficiency anaemia.
- Initial serological testing requires measuring anti-tTG IgA alongside total IgA levels while the patient remains on a gluten-containing diet.
- Definitive long-term management relies on a lifelong gluten-free diet.
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