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

[Isabelle Meyts]

Dear Anders, Dear Mikko,

We have seen CMV induced HLH in a Shwachmann patient (reported in Schaballie et al Eur J Pediatr. 2013 May;172(5):613-22) with hemophagocytosis both on bone marrow as well as on liver biopsy (which may be the only site you find hemophagocytosis). He recovered after dexamethasone + IVIG + ganciclovir. He is doing well now at age 6y - only intermittent neutropenia.
However, with persistent bi- lineage cytopenia in proven SDS, we would be likely to go for a transplant.

Best wishes,
Isabelle Meyts
Dept of Pediatrics
University Hospitals Leuven, Belgium

Van: Anders Fasth [mailto:anders at fasth.com]
Verzonden: vrijdag 14 augustus 2015 19:50
Aan: CIS-PIDD <cis-pidd at lyris.dundee.net>
Onderwerp: [cis-pidd] Shwachman with HLH?

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

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