[CIS PIDD] [cis-pidd] Shwachman with HLH?

[Anders Fasth]

Dave, Thanks a lot for valuable input and encouragement. 
Anders
On 15 aug 2015, at 08:34, David Buchbinder <dbuchbinder at CHOC.ORG> wrote:

> Dear Anders,
>  
> Great case!  I would be complete and screen for other marrow failure disorders as well (chromosomal breakage, telomere length, Pearsons, etc.).  Overall, I am not that married to the notion of HLH from what you described.  Even with lots of hemophagocytosis....  we have had marrow failure patients present with infection and hemophagocytosis.   We have had Shwachman patients with multilineage cytopenias including transfusion dependent anemia, neutropenia, etc.  We have had Shwachman patients with impressive transaminitis that eventually resolved.  We actually had one young lady that required quite a bit of transfusion support which resolved over time.  The sepsis is undoubtedly a contributing factor to the cytopenias.   I would consider stopping the Bactrim as well given the risk of myelosuppression with that antibiotic.  I like the idea of looking for viruses such as parvo, etc.   I would consider using other growth factors as well.  Perhaps GM-CSF may have some benefit.  A little epogen probably would not be harmful as well as a trial.  She probably has some extra iron around if she has required transfusion support so you probably don't need to supplement with iron in combination with the epogen.  I do think that I would give it a little time post-sepsis.   If infections continue or if you continue to be red cell dependent I do think consideration of a reduced intensity based transplant would be good granted you have a reasonable donor.
>  
> Hope that helps...
>  
> Dave
>  
> David Buchbinder, MD
> Division of Hematology
> CHOC Children's- UC Irvine  
> 
>  
> 
> >>> Anders Fasth <anders at fasth.com> 08/14/15 10:50 AM >>>
> Dear All,
> I would appreciate greatly your comments and advice on the following case.
> A girl born at the end of May 2015, (2.5 mo old), who is compound heterozygous for the SDS gene found on WES and confirmed today with Sanger on her and her parents. Only child. Lithuanian and Swedish parents
> 
> She was admitted last days in June with septicemia with septic metastasis in her faces. Blood cultures were unfortunately taken after i.v. antibiotics. She was found to be profoundly neutropenic and anemic but with normal platelets. And slightly increased liver transferases and triglycerides. Plus ferritin 1800. HLH was suspected but functional test came out negative or borderline. She recovered quickly. As the marrow aspiration showed markedly diminished myelopoiesis she was given G-CSF with prompt normalization of her neutrophils. WES was done and excluded FHL but  gave the dx Shwachmann Diamond. In the meantime, elastase in feces was found to be low. She is also shorter than expected. 
> 
> She is on prophylaxis with Bactrim and itraconazole. Still she had a perianal abscess.
> 
> But since 14 days ago she is unresponsive to G-CSF and is transfusion dependent with no reticulcytes. A new marrow shows virtually only mature granulocytes, no early stages, and very poor erythropoesis, normal lymphopoiesis and trombocytopoiesis. And her ferritin remains high around 1800 - no tendency to go up or down during her 7 weeks of disease. No fever except during her septicemia and mild increase when she had her perianal abscess.  In the last days also a tendency to slowly declining platelets - right now around 148 x 10E9/L
> 
> It seems as she has some kind of  "HLH light”. Do you agree? Also, do you agree that we should transplant her very soon. 
> Any comments and suggestions is highly appreciated. None of our previous Shwachman patients had a similar course. 
> 
> Anders
> 
> Anders Fasth, MD, PhD
> Professor of Pediatric Immunology, 
> Dept of Pediatrics, University of Gothenburg
> Address: The Queen Silvia Children’s Hospital,
> SE-416 85 Göteborg, Sweden
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