[PAGID] complications in XLA patient

[Berger, Melvin]

we had a kid with antibody deficiency (I can't remember if it was confirmed XLA or if he had B-cells and was considered CVID) who also had nodular regenerative hyperplasia of the liver and splenomegaly. He had difficult-to-control bleeding after a liver biopsy and developed post operative complications to which he eventually succumed. No infectious agent was identified from the liver or spleen. 
 
I would not rule out the possibility of a herpes virus in the liver - see the recent case report by Soden in feb J Peds 154: 299, and also there is a review of nodular regenerative hyperplasia as a major problem in XLA by Malamut- J Hepatol 48: 74-82, 2008. Also be ware of CMV colitis as a cuase of the diarrhea.
 
Neither of those likely explain the ulcers- can you find out if there is any similar illness in the district from which he originally comes and/or he recently visited ?
 
Melvin Berger, M.D., Ph.D.
Adjunct Professor of Pediatrics and Pathology
Case Western Reserve University
phone 216 844 3237
 
Director, Jeffrey Modell Center for Primary Immune Deficiencies
Division of Allergy-Immunology
Rainbow, Babies and Children's Hospital
University Hospitals of Cleveland
RB&C Rm 504, MS 6008B
11100 Euclid Ave.
Cleveland, OH 44106

________________________________

From: pagid-bounces at list.clinimmsoc.org on behalf of Ashish Kumar
Sent: Thu 2/12/2009 10:57 PM
To: pagid at list.clinimmsoc.org
Subject: Re: [PAGID] complications in XLA patient



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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