4-yr old presented with fever 1 month, pancytopenia & massive spleno-hepatomegaly
D/d massive splenomegaly
1. Myelo proliferative disorder (CML, JMML,myelofibrosis)
2. Storage disorder
3. Leishmaniasis
4. Tropical splenomegaly
5. Lympho proliferative disorder
D/d massive splenomegaly
1. Myelo proliferative disorder (CML, JMML,myelofibrosis)
2. Storage disorder
3. Leishmaniasis
4. Tropical splenomegaly
5. Lympho proliferative disorder
Bone marrow -showed increase in histiocytes showing evidence of hemophagocytosis with proliferation of T lymphocytes
Lymph node biopsy - Histiocytes with HLH with T cell proliferatation
High Ferritin
Pancytopenia
Fever
High triglycerides & low fibrinogen
Splenomegaly
Lymph node biopsy - Histiocytes with HLH with T cell proliferatation
High Ferritin
Pancytopenia
Fever
High triglycerides & low fibrinogen
Splenomegaly
Final diagnosis -HLH with T cell Lymphoproliferation
EBV PCR -ve , EBV IgM-ve EBV IgG+
Double negative T cell - normal
HIV-ve
IgG, A, M, E - normal
No family h/o similar illness or death of sibling
Mutations sent for primary HLH & X-linked Lymph proliferative disorder
EBV PCR -ve , EBV IgM-ve EBV IgG+
Double negative T cell - normal
HIV-ve
IgG, A, M, E - normal
No family h/o similar illness or death of sibling
Mutations sent for primary HLH & X-linked Lymph proliferative disorder
PET-CT showed mildly avid upto 1 cm Lymphnodes in neck and axila and massive splenomegaly & hepatomegaly
No LD bodies seen on bone marrow
No leukemia or lymphoma on bone marrow & lymph node biopsy
No Guacher cell seen on bone marrow
No portal hypertension on USG Doppler
No LD bodies seen on bone marrow
No leukemia or lymphoma on bone marrow & lymph node biopsy
No Guacher cell seen on bone marrow
No portal hypertension on USG Doppler
EBV-HLH is not suitable path diagnosis
it is more appropriate to consider HLH as a concomitant diagnosis.
The clinicians could make a comprehensive diagnosis like AEBV-associated HLH based on pathological diagnosis, clinical presentation & genetic testing
haematologica.org
it is more appropriate to consider HLH as a concomitant diagnosis.
The clinicians could make a comprehensive diagnosis like AEBV-associated HLH based on pathological diagnosis, clinical presentation & genetic testing
haematologica.org
Rethinking the elusive boundaries of EBV-associated T/NK-cell lymphoproliferative disorders
X-linked lymphoproliferative syndrome, or Duncan disease, is a PID characterized by severe immune dysregulation often after EBV.
It is a complex phenotype manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, HLH), and/or lymphoma
omim.org
It is a complex phenotype manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, HLH), and/or lymphoma
omim.org
SAP deficiency blocks NKT-cell ontogeny
Normal SAP has been shown to be absolutely required for NKT-cell development
The defect in NKT-cell development has been reversed in mice by molecular reconstitution of SAP in the hematopoietic compartment
ashpublications.org
Normal SAP has been shown to be absolutely required for NKT-cell development
The defect in NKT-cell development has been reversed in mice by molecular reconstitution of SAP in the hematopoietic compartment
ashpublications.org
Treatment
Patiebts with active HLH, treatment with steroids and etoposide
Definitive correction of XLP1 to date has only been achieved with Allo HSCT
OS of patients with XLP undergoing allo HSCT is 71%
RIC conditioning reduces TRM
Patiebts with active HLH, treatment with steroids and etoposide
Definitive correction of XLP1 to date has only been achieved with Allo HSCT
OS of patients with XLP undergoing allo HSCT is 71%
RIC conditioning reduces TRM
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