Makindo Medical Notes

⚠️ Coeliac disease is associated with an increased risk of malignancy (esp. lymphomas, small bowel adenocarcinoma, and squamous cell carcinoma of the oropharynx/oesophagus). 👉 New or unexplained symptoms in a diagnosed patient should always be taken seriously as they may indicate complications or transformation.

ℹ️ About

• Coeliac disease is a chronic autoimmune enteropathy triggered by dietary gluten (found in wheat, rye, barley).
• Prevalence ≈ 1 in 100 in Western populations. In the UK, incidence ≈ 1 in 2000; highest prevalence in western Ireland (≈ 1 in 300).
• Can develop at any age, so adults with new GI or systemic symptoms should be re-tested.

🧬 Aetiology & Pathophysiology

• Triggered by sensitivity to α-gliadin (a component of gluten).
• Immune-mediated: T-cell response to gliadin peptides → release of interferon-γ → villous atrophy + crypt hyperplasia.
• Genetic risk: 95% carry HLA-DQ2 or HLA-DQ8.
• Strong associations with type 1 diabetes and other autoimmune diseases.

🧒 Clinical Features

• Infants/young children (8–24 months): Failure to thrive, abnormal stools, abdominal distension, wasted buttocks, irritability, anaemia.
• Older children/adults: Abdominal pain, fatigue, headaches, arthralgia, diarrhoea, steatorrhoea, weight loss.
• Extra-intestinal features: Iron/folate deficiency anaemia, osteoporosis/osteomalacia, infertility, neurological symptoms (peripheral neuropathy, ataxia).
• Dermatitis herpetiformis: Intensely itchy, blistering rash on elbows, knees, buttocks – pathognomonic association with coeliac disease.

🧪 Investigations

• Bloods:
  • Anaemia → microcytic (iron deficiency) or macrocytic (folate deficiency).
  • Low albumin, calcium, phosphate; raised ALP = vitamin D deficiency.
  • Prolonged PT = vitamin K deficiency.
  • Howell–Jolly bodies on blood film → hyposplenism.
• Serology:
  • IgA anti-tTG = first-line, high sensitivity/specificity (~95%).
  • Check total IgA (IgA deficiency more common in coeliac patients).
  • Anti-endomysial Ab: useful if tTG negative but suspicion high.
• Endoscopy + biopsy: Gold standard. Multiple duodenal biopsies → subtotal villous atrophy, crypt hyperplasia, lymphocytic infiltration.

🔍 Differentials

• Tropical sprue, cystic fibrosis, milk protein enteropathy.
• Infective causes: Giardiasis.
• Other: chronic pancreatitis, abetalipoproteinaemia.

💊 Management

• Strict lifelong gluten-free diet (GFD) – cornerstone of treatment.
• Antibody titres fall with good adherence → useful for monitoring.
• Consider steroids for rare severe refractory cases.
• Re-biopsy in selected patients (e.g., persistent symptoms, suspicion of refractory disease).
• Family screening recommended (first-degree relatives at higher risk).

⚠️ Complications

• Children → growth retardation, delayed puberty.
• Bone health: Osteopenia, osteoporosis, osteomalacia.
• Malignancy → small bowel adenocarcinoma, oesophageal SCC, non-Hodgkin’s lymphoma (esp. enteropathy-associated T-cell lymphoma).
• Hyposplenism → risk of overwhelming sepsis (consider vaccination for encapsulated organisms).
• Possible reduced risk of breast cancer (observational studies).

📌 Key Teaching Pearls

• Always test for coeliac disease before diagnosing IBS in adults.
• Do not start a gluten-free diet until after biopsy confirmation – can normalise histology and obscure diagnosis.
• Vaccinate against pneumococcus if hyposplenic.
• Long-term follow-up essential → monitor nutrition, bone density, and malignancy risk.

📚 References

• Coeliac UK – Information & Resources
• NICE Guidelines: Coeliac Disease Recognition, Assessment and Management.

Cases — Coeliac Disease

• Case 1 (Classical presentation): A 9-year-old boy with chronic diarrhoea, abdominal distension, and faltering growth. Bloods show iron-deficiency anaemia and low vitamin D. Anti-tTG IgA raised; duodenal biopsy confirms villous atrophy. Management: Lifelong gluten-free diet with dietitian support; iron and vitamin D supplementation. Outcome: Growth improves and anaemia resolves within 6 months; antibody titres fall on follow-up.
• Case 2 (Atypical adult presentation): A 42-year-old woman with fatigue, recurrent aphthous ulcers, and refractory iron-deficiency anaemia. No GI symptoms. Anti-tTG positive; biopsy confirms coeliac disease. Management: Gluten-free diet, nutritional counselling, and iron replacement. Outcome: Symptomatic improvement and normalisation of Hb after 4 months. Counselling provided on hidden gluten sources and long-term monitoring.
• Case 3 (Silent/subclinical): A 55-year-old man is investigated for osteoporosis after a low-impact wrist fracture. He denies GI symptoms but has mild iron-deficiency anaemia. Anti-tTG antibodies elevated; duodenal biopsy shows villous blunting. Management: Gluten-free diet, calcium and vitamin D supplementation, bisphosphonate therapy for osteoporosis. Outcome: Bone density stabilises; anaemia improves. Patient remains asymptomatic but is educated about strict adherence to the diet to prevent long-term complications.

Teaching Commentary 🧑‍⚕️

These three cases show the spectrum of coeliac disease: 1) Classic malabsorptive form in children, 2) Atypical extra-intestinal presentation in adults, 3) Silent/subclinical disease detected through complications like osteoporosis. The disease is immune-mediated, triggered by gluten peptides leading to villous atrophy. Management is always a lifelong gluten-free diet, with dietitian support and monitoring for deficiencies. Key complications include malabsorption, reduced bone mineral density, and malignancy (especially enteropathy-associated T-cell lymphoma). Early recognition — even in “silent” cases — prevents irreversible complications.