Coeliac Disease
In Coeliac disease, people are intolerant to Gliadin (component of Gluten), which is found in wheat, barley, and rye. It's more susceptible in those with HLA-DQ2 and HLA-DQ8. The pathophysiology that occurs here is:
Gluten is broken down into Gliadin, which then has its amino acids removed by Tissue Transaminases (TTG)
This deaminated Gliadin binds to APCs and is presented to Th cells, leading to cytotoxic T cell activity → Villous Atrophy
Crypts become larger to compensate for this decrease in surface area (see on biopsy)
Humoral response leads to production of Anti-TTG, Anti-Endomyseal, and Anti-Gliadin (good diagnostic markers)
Differentials - Non-coeliac gluten insensitivity (NCGS), Food allergy, IBD, IBS
Presentation:
GI symptoms - Abdominal pain, Diarrhoea, Steatorrhoea, Bloating, N+V
Systemic symptoms - Weight loss and Failure to thrive in children, Dermatitis Herpetiformis (pruritic papulovesicular lesions over the buttocks and extensor surfaces of the arms, legs, and trunk), Fatigue, Pallor
Investigations:
1st line tests - Total IgA and Anti-TTG IgA
Anti-TTG IgG should be checked instead if IgA deficient
Anti-Endomyseal should be checked if Anti-TTG weakly +ve
N.B. Some patients are IgA deficient, therefore will have a false negative Anti-TTG IgA.
Gold-standard diagnostic test - OGD and Duodenal/jejunal biopsy
Findings - Villous atrophy, Crypt hyperplasia, Intraepithelial lymphocytes
Bloods - FBC (for anaemia), U&E, Bone profile, LFT (for malabsorption of albumin), Ferritin, B12, Folate
N.B. May be worth doing a stool culture to rule out infection.
Management:
Lifelong Gluten-free diet!
N.B. Patients will require regular monitoring to check adherence to a gluten-free diet, and to screen for complications.
N.B. Dapsone is an antibiotic that can be given to help reduce pruritic symptoms of dermatitis herpetiformis.
Complications:
Anaemia - Iron, B12, and Folate deficiency
B12 deficiency may also cause a peripheral neuropathy
Osteoporosis - malabsorption of calcium (DEXA scan needed)
Functional hyposplenism - makes them susceptible to encapsulated organisms (will need -coccal vaccines)
Enteropathy-associated T cell lymphoma - directly proportional to the patient’s adherence to a gluten-free diet