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

Sat Aug 15 02:34:03 EDT 2015

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
Tel +46-31-343 5220 (343 4000 switchboard)

Mobile +46-70-0852717 (work)
Mobile +46-70-687 5970 (private) 
Fax +46-31-707 0694

=====================================================is for the sole use of intended recipient(s)and may contain confidential
and privileged information. Any unauthorized review, use, disclosure or
distribution is prohibited. If you are not the intended recipient,
please contact the sender by reply E-mail and destroy all copies of the
original message and its attachments without reading or saving in any
manner.

Thank you

==============================================================================

---

You are currently subscribed to cis-pidd as: anders at fasth.com.

To unsubscribe click here:
http://cts.dundee.net/u?id=96396393.0424421af488c2b64bab965fe78d899e&n=T&l=cis-pidd&o=3044117

(It may be necessary to cut and paste the above URL if the line is
broken)

or send a blank email to
leave-3044117-96396393.0424421af488c2b64bab965fe78d899e at lyris.dundee.net

---

You are currently subscribed to cis-pidd as: dbuchbinder at choc.org.

To unsubscribe click here:
http://cts.dundee.net/u?id=96396481.905e75689f86143242a7fcc04e69bfcb&n=T&l=cis-pidd&o=3055143

(It may be necessary to cut and paste the above URL if the line is
broken)

or send a blank email to
leave-3055143-96396481.905e75689f86143242a7fcc04e69bfcb at lyris.dundee.net

CHOCLX-MGSM made the following annotations
---------------------------------------------------------------------
Fri Aug 14 2015 23:34:08 

This email message and any files transmitted are sent with confidentiality in mind and contain privileged or copyright information. You must not present this message to another party without gaining permission from the sender.  If you are not the intended recipient you must not copy, distribute or use this email or the information contained in it for any purpose other than to notify Children's Hospital of Orange County.  Any views expressed in this message are those of the sender, except where the sender specifically states them to be the views of Children's Hospital of Orange County. If you have received this message in error, please notify the sender immediately, and delete this email from your system. We do not guarantee that this material is free from viruses or any other defects although due care has been taken to minimize the risk.

---------------------------------------------------------------------

---
You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://cts.dundee.net/u?id=96396833.5a9591ccd1e327fe6bc4d1543298c482&n=T&l=cis-pidd&o=3056244
or send a blank email to leave-3056244-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20150814/cf74d1b7/attachment-0001.html>