Coeliac disease ✅

Related Subjects: |Colorectal cancer |Colorectal polyps |Ulcerative Colitis |Acute Severe Colitis |Crohn's disease |Coeliac disease

⚠️ Coeliac disease carries an increased risk of malignancy (especially enteropathy-associated T-cell lymphoma, small bowel adenocarcinoma, and squamous cell carcinoma of the oropharynx/oesophagus). 👉 New or unexplained symptoms in a diagnosed patient should always prompt review, as they may indicate complications or malignant 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 in western Ireland (≈ 1 in 300).
• Can present at any age – adults with new GI or systemic symptoms should be considered for testing.

🧬 Aetiology & Pathophysiology

• Immune reaction to α-gliadin → T-cell mediated release of interferon-γ → villous atrophy, crypt hyperplasia, and lymphocytic infiltration.
• Strong genetic predisposition: 95% carry HLA-DQ2 or HLA-DQ8.
• Associated autoimmune conditions: type 1 diabetes, autoimmune thyroid disease, autoimmune liver disease.

🧒 Clinical Features

• Infants/young children: Failure to thrive, abdominal distension, abnormal stools, anaemia, irritability.
• Older children/adults: Fatigue, diarrhoea, steatorrhoea, abdominal pain, weight loss, headaches, arthralgia.
• Extra-intestinal features: Iron/folate deficiency anaemia, osteoporosis/osteomalacia, infertility, neurological manifestations (peripheral neuropathy, ataxia).
• Dermatitis herpetiformis: Intensely itchy rash on elbows, knees, and buttocks; pathognomonic for coeliac disease.

🧪 Investigations

• Blood tests: FBC, iron/folate/vitamin B12, calcium, phosphate, ALP, albumin, PT/INR. Howell–Jolly bodies may indicate hyposplenism.
• Serology: IgA anti-tTG (first-line, high sensitivity/specificity), total IgA to rule out IgA deficiency, anti-endomysial antibodies if needed.
• Endoscopy + biopsy: Multiple duodenal biopsies show villous atrophy, crypt hyperplasia, and intraepithelial lymphocytosis (gold standard).

🔍 Differentials

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

💊 Management

• Gluten-free diet (GFD): Lifelong adherence is cornerstone. Monitor antibody titres for adherence.
• Nutritional supplementation: Iron, folate, calcium, vitamin D, and fat-soluble vitamins as required.
• Refractory cases: Short course of corticosteroids or immunosuppressants if strict GFD fails.
• Family screening: First-degree relatives should be considered for testing.
• Follow-up: Monitor growth in children, bone health, antibody titres, and symptoms; re-biopsy only if symptoms persist.

⚠️ Complications

• Growth retardation and delayed puberty in children.
• Osteopenia, osteoporosis, and osteomalacia due to malabsorption.
• Malignancy: enteropathy-associated T-cell lymphoma, small bowel adenocarcinoma, oesophageal SCC.
• Hyposplenism → risk of overwhelming sepsis (vaccinate against encapsulated organisms).

📌 Key Teaching Points

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

Cases – Coeliac Disease

• Case 1 (Classic pediatric): 9-year-old boy with chronic diarrhoea, abdominal distension, faltering growth, iron-deficiency anaemia, low vitamin D. Anti-tTG IgA raised; duodenal biopsy confirms villous atrophy. Management: Lifelong GFD, dietitian support, iron & vitamin D supplementation. Outcome: Growth improves, anaemia resolves, antibody titres fall.
• Case 2 (Atypical adult): 42-year-old woman with fatigue, aphthous ulcers, refractory iron-deficiency anaemia, no GI symptoms. Anti-tTG positive; biopsy confirms coeliac disease. Management: Gluten-free diet, nutrition counselling, iron replacement. Outcome: Symptom improvement and normal Hb after 4 months.
• Case 3 (Silent/subclinical): 55-year-old man with osteoporosis after low-impact fracture, mild anaemia, elevated anti-tTG, villous blunting on biopsy. Management: Gluten-free diet, calcium & vitamin D, bisphosphonate therapy. Outcome: Bone density stabilises, anaemia improves, patient educated on strict diet adherence.

Teaching Commentary 🧑‍⚕️

These cases illustrate 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. Monitor for deficiencies, bone health, and malignancy risk. Early recognition prevents irreversible complications.

📚 References

• NICE Guideline: Coeliac Disease – Recognition, Assessment and Management (NG20)
• Coeliac UK – Information & Resources