07/11/2025
Coeliac Disease
1. Definition
Autoimmune disorder triggered by gluten (wheat, barley, rye)
Causes immune-mediated damage to small-intestinal mucosa
2. Pathophysiology
Gluten → gliadin peptides
Abnormal immune response → T-cell activation
Villous atrophy
Crypt hyperplasia
Malabsorption
3. Genetics
Strong association:
HLA-DQ2 (90–95%)
HLA-DQ8
4. Risk Factors
First-degree relatives
Type 1 diabetes
Autoimmune thyroid disease
Down syndrome
IgA deficiency
Other autoimmune disorders
5. Clinical Features
A. Gastrointestinal
Chronic diarrhea
Steatorrhea
Abdominal pain
Bloating
Weight loss
Failure to thrive (children)
B. Extra-intestinal
Iron-deficiency anemia
Osteopenia/osteoporosis
Dermatitis herpetiformis
Short stature
Infertility
Neurological symptoms (neuropathy, ataxia)
Fatigue
6. Investigations
A. Blood Tests
tTG-IgA (tissue transglutaminase) – first-line
Total IgA (to rule out IgA deficiency)
EMA IgA (confirmatory)
DGP antibodies (in children)
B. Genetic Tests
HLA-DQ2 / HLA-DQ8 (to rule out disease, not diagnose)
C. Endoscopy
Duodenal biopsy:
Villous atrophy
Crypt hyperplasia
Increased intraepithelial lymphocytes
7. Complications
Malnutrition
Iron, folate, B12 deficiency
Osteoporosis
Infertility
Lactose intolerance
Small bowel lymphoma (rare)
Adenocarcinoma of small intestine
8. Management
Lifelong strict gluten-free diet
Avoid wheat, barley, rye
Oats only if gluten-free certified
Nutritional supplementation
Iron, folate, B12
Calcium, vitamin D
Monitoring:
Symptom improvement
Antibody levels
Bone density (DEXA)
Treat complications
Education & dietician support
9. Prognosis
Excellent with strict gluten-free diet
Poor adherence → persistent symptoms, complications