[CIS-PAGID] 16 yr old boy with difficult to control Autoimmune Enteropathy

[Jane Peake]

Hi 
I would appreciate any thoughts regarding management of this difficult case. 

Initial presentation age 9 months with diarrhoea and poor weight gain
- Duodenal biopsies (on gluten free diet) total absence of villi, inflammatory infiltrate
- Diagnosed as autoimmune enteropathy
- Good clinical response to steroids; also required period on TPN	
- Maintained on Cyclosporine - gradually weaned off
- Off all treatment by ~ 4yrs of age

Relapse 2004 (age 8):
- Presented with severe watery diarrhoea
- Partial villous atrophy and inflammatory infiltrate
- Treated with steroids, then maintained on Tacrolimus with good control

Relapse 2008 (age 12):
- Over next couple of years treatments tried (and in various combinations) sirolimus, pulse methyl prednisolone, azathioprine, Tacrolimus, infliximab
- Currently on azathioprine, tacrolimus, prednisone
- Over last 4 years TPN dependent, completely intolerant of any oral intake including amino acid formulas
- Still has 2-3 vomits daily and approx 3 loose bowel motions daily
- Anti-enterocyte Ab - neg; FOXP3 expression normal
- Only other Hx of note: R renal artery stenosis following investigation for hypertension - R nephrectomy 1998
- No other problems at all
- Life is miserable for him!!


I was considering Rutuximab but am unable to find any literature on the use of this in this setting. Any thoughts would be very much appreciated. 

Kind regards Jane


Dr Jane Peake
Paediatric Immunologist and Allergist
Senior Lecturer
University of Queensland
level 3 Foundation Building
Royal Children's Hospital
Herston Rd, Herston QLD 4029
Tel (61 7) 33655333 or 36365059
Fax (61 7) 33655455