[PAGID] complications in XLA patient

[Ashish Kumar]

I need help with a very complex patient. It's a long story so please 
bear with me.

- 24 year old Vietnamese male with X-linked agammaglobulinemia
- was on monthly plasma infusions in Vietnam until 2003 when he came to 
the US and was switched to IVIG (BTK mutation was confirmed as well)
- developed ulcers on legs at age 14  that spread (ulcer spanned ankle 
to knee on right leg) and became chronic
- after multiple biopsies and cultures, chronic non-healing ulcers 
diagnosed as pyoderma gangrenosum; immune suppression initiated 4 years 
ago with prednisone+MMF with gradual but dramatic response; at one point 
ulcers were completely healed
- one episode of ascites 3 years ago, with no clear etiology; fluid 
drained and did not recur
- recently traveled to Vietnam for a month (large dose of IVIG prior to 
departure)
- upon return, leg ulcers noted to have regressed to original state of 
2003, along with significant ascites
- evaluation including paracentesis, liver biopsy, viral PCRs reveal no 
etiology; ascites fluid noted to be transudate, liver biopsy showed 
neutrophil infiltration with regenerative nodular hyperplasia
- prednisone resumed for PG with mild improvement in leg ulcers; MMF not 
restarted because he was noted to have low WBC and platelets (30k)
- 2 weeks later developed fever, recurrence of massive ascites followed 
by profuse watery bloody diarrhea; 4 litres of bloody watery stool in a 
one day
- GI endoscopy showed duodenum heavily infiltrated with lymphocytes, 
mucosa of duodenum completely denuded with significant apoptotic bodies 
- pathology consistent with grade III-IV GVHD; also noted to have 
several esophageal varisces on endoscopy although none actively bleeding
- after ascitis fluid was drained, massive splenomegaly was palpable, 
confirmed by abdominal CT, which showed multiple splenic infarcts
- underwent splenectomy with normalization of platelet count; spleen 
pathology just showed multiple infarcts

The ascites and splenic infarcts can be explained by portal hypertension 
caused by regenerative nodular hyperplasia of liver. But what caused 
that - the same dysregulated T-cells that caused the GVHD-like gut 
pathology? We cannot find any infectious agents anywhere, so do we 
initiate immune suppression? If so, with what - he developed watery 
diarrhea 2 weeks after Prednisone was initiated (1.5 mg/Kg). In the BMT 
world, steroid resistant GVHD would be treated with ATG or sometimes 
Infliximab/Remicaid. The symptoms began 2-3 weeks after he returned from 
Vietnam, so a tropical infection is less likely since the incubation 
period would be too long. He has puzzled all the specialists - GI, 
tropical medicine, pathology. Any ideas?

Thanks!

Ashish Kumar

-- 
Ashish Kumar, MD, PhD
Assistant Professor
Pediatric Hematology/Oncology/Blood and Marrow Transplantation
University of Minnesota
420 Delaware St. SE
Minneapolis, MN 55455
Ph: 612-626-2778
Fax: 612-626-4842

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