1. CPC Immunology Department October 28 th 2009

2. 14 year old male Case history. JG, 14 year old male Intermittent diarrhoea x 3 years Occasional abdominal pain Mild abdominal distension Fatigue, arthralgia

3. PHOTOGRAPH OF PATIENT

4. Clinical history (continued) Past history – well until 11 years old Family history – mother has rheumatoid arthritis; aunt is hypothyroid

5. Physical examination Examination – Thin; weight – 6 stone (38 kg); height – 4 feet, 10 inches (147 cm) Pre-pubertal Pale facies; pulse 85/min, regular; chest clear Abdomen – mild distension, slight tenderness Joints – no synovitis; Skin – no rashes

6. Early blood test results Hgb – 9g/dl; MCV – 75fl WCC – 11 x 10 9 /l; platelets 500 x 10 9 /l ESR – 45mm/hr; CRP 80 mg/l Albumin 28g/l; GGT 93 IU/l; Alk phos. – 140 IU/l Urea, creatinine, electrolytes normal

7. Further blood test results Complement levels – C3 – 80 g/l; (normal); C4 – 12 g/l (normal 0.16 – 0.70) Immunoglobulins – IgG – 18g/l; IgM – 2g/l; IgA < 0.05 g/l ANA +, titre 320; Smooth muscle antibody +, titre 80 ANCA +, perinuclear pattern, titre 80 Gliadin antibodies +, 30 units (normal range < 5 units)

8. Discussion issues What additional information would you like to have about the patient’s history?

9. Discussion issues What further physical findings would you look for?

10. Discussion issues What further diagnostic tests should be considered?

11. Discussion issues How would you interpret the above findings? What would you include in the differential diagnosis? What early investigations are warranted? What specific tests would you perform?

12. Coeliac disease

13. Endomysial antibody test > 99% specific for coeliac disease

14. Dermatitis Herpetiformis Found in occasional patients with coeliac disease

15. Inflammatory bowel disease Crohn’s disease Ulcerative colitis

16. Small bowel barium studies Crohn’s disease - stricture of terminal ileum Coeliac disease “coin stacking”

17. Crohn’s - endoscopy Normal small bowelCrohn’s small bowel with linear ulcers

18. Crohn’s histology Classic granulomatous inflammation

19. Capsule endoscopy – Crohn’s

20. Outcome in patient JG 1. This patient was incorrectly diagnosed with coeliac disease, on the basis of raised gliadin antibodies, a non-specific test for coeliac disease He failed to improve on a gluten free diet

21. Outcome in patient JG 2. A barium follow through examination showed narrowing of the terminal ileum This was resected and Crohn’s pathology confirmed He has had several further resections and now has a short bowel syndrome