CPC

Immunology Department

October 28th 2009

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

PHOTOGRAPH OF PATIENT

Clinical history (continued) Past history – well until 11 years old

  Family history – mother has

rheumatoid arthritis; aunt is hypothyroid

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

Early blood test results Hgb – 9g/dl; MCV – 75fl WCC – 11 x 109/l; platelets 500 x 109/l ESR – 45mm/hr; CRP 80 mg/l Albumin 28g/l; GGT 93 IU/l; Alk phos. –

140 IU/l Urea, creatinine, electrolytes normal

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)

Discussion issues

What additional information would you like to have about the patient’s history?

Discussion issues

What further physical findings would you look for?

Discussion issues

What further diagnostic tests should be considered?

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?

Coeliac disease

Endomysial antibody test

> 99% specific for coeliac disease

Dermatitis Herpetiformis

Found in occasional patients with coeliac disease

Inflammatory bowel disease

Crohn’s disease Ulcerative colitis

Small bowel barium studies

Crohn’s disease -stricture of terminal ileum

Coeliac disease“coin stacking”

Crohn’s - endoscopy

Normal small bowel Crohn’s small bowel with linear ulcers

Crohn’s histology

Classic granulomatous inflammation

Capsule endoscopy – Crohn’s

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

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