Post on 28-Dec-2015
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