Coeliac disease is an autoimmune condition characterised by villous atrophy and malabsorption, due to hypersensitivity to gluten in the small intestine.
It peaks in childhood and between 50 and 60 years.
- Risk factors
- Genetics
- HLA DQ2 (95%)
- HLA-DQ8 (80%)
- Early-life gluten (gliadin) exposure
- Wheat
- Barley
- Rhye
- Viral infection
- Changes in gut microbiota
- Genetics
- Associated conditions
- Dermatitis herpetiformis
- Type 1 diabetes
- Autoimmune hepatitis
- Pathophysiology
- Partial digestion of gluten forms gliadin peptides which cross the intestinal epithelium
- Tissue transflutaminase (tTG) in the intestinal mucosa deaminates gliadin peptides, increasing their affinity for HLA-DQ2 and HLA-DQ8 molecules on antigen-presenting cells (APCs)
- Deamidated gliadin binds to APCs → activation of gluten-specific T cells, the innate immune system, and production of anti-tTG antibodies → inflammation → villous atrophy and crypt hyperplasia
- Signs and symptoms
- Chronic or intermittent diarrhoea
- Failure to thrive or faltering growth in children
- Persistent or unexplaind GI symptoms
- Prolonged fatigue
- Recurrent abdominal pain, cramping or distension
- Sudden or unexpected weight loss
- Unexplained iron deficiency anaemia or other unsepcified anaemia
- Differentials
- Irritable bowel syndrome (IBS)
- Inflammatory bowel disease (IBD)
- Non-coeliac gluten sensitivity (NCGS)
- Abdominal symptoms without small intestine damage
- Investigations
- Serology
- IgA Anti-tTG antibodies has a high sensitivity and specificity. False-negative results may occur in patients with selective IgA deficiency.
- Anti-endomysial antibodies (EMA) is more specific but less sensitive
- Total serum IgA levels to exclude selective IgA deficiency
- Duodenal biopsy is the gold standard test
- Villous atrophy
- Crypt hyperplasia
- Increased intraepithelial lymphocytes
- Serology
- Treatment
- Lifelong gluten-free diet
- Correct nutritional deficiencies
- Prevent osteoporosis
- Repeat serological testing for antibody titres after diagnosis
- Complications
- Anaemia due to iron, folate and B12 deficiency
- Folate deficiency is more common than B12 deficiency
- Hypersplenism
- Osteoporosis
- Osteomalacia
- Lactose intolerance
- Enteropathy associated T-cell lymphoma of small intestine
- Subfertility
- Oesophageal cancer and other malignancies
- Anaemia due to iron, folate and B12 deficiency