[PAGID] complications in XLA patient
Ashish Kumar
kumar036 at umn.edu
Thu Feb 12 22:57:40 EST 2009
Yes, XLA was confirmed by gene testing; pedigree has a classic X-linked
inheritance pattern with several male deaths in early childhood, and he
has no B-cells. He has had PCR testing for all the viruses known to
cause hepatitis for which testing is available; also for
schistosomiasis. Unfortunately, I don't have any information on the
plasma he received until 2003 in Vietnam, except that he received it
monthly starting at age 10.
John Ziegler wrote:
> -
>
> Ashish
>
> Has XLA been confirmed by gene testing? What viral antigen, PCR testing has
> he had? What screening of plasma donors was in place?
>
> John
>
> -----Original Message-----
> From: pagid-bounces at list.clinimmsoc.org
> [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Ashish Kumar
> Sent: Friday, 13 February 2009 2:46 PM
> To: Pagid
> Subject: [PAGID] complications in XLA patient
>
> 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
>
>
>
>
--
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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