الفهرس 
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Abstract
Hemophagocytic lymphohistiocytosis (HLH); is a hyper-inflammatory disorder caused by systemic overgrowth of macrophages in the reticulo-endothelial system leading to cytokine storm; presented mainly with fever, splenomegaly, bi/pancytopenia; hyper-ferritinemia, hyper-triglyceridemia and hypofibrinogenemia; which can progresses early to disseminated intravascular coagulation (DIC), multiorgan dysfunction with dismal outcome.
Hepatic manifestations are not well recognized primary presentation in pediatric patients with HLH, thus mandates high levels of suspicious for early diagnosis.
Our work aimed at studying the hepatic involvement clinically, laboratory, and pathologically in patients clinically diagnosed or genetically confirmed 1ry HLH and in patients with 2ry acquired HLH.
A retrospective cohort study including patients diagnosed clinically as HLH or genetically confirmed 1ry HLH and patients with 2ry HLH was performed. Data was collected from patients files in the Pediatric Hematology oncology Clinic, Children’s Hospital, Ain Shams University during the period from April 2021 to September 2021.
Patients were divided into 2 groups according to hepatic elevated transaminases at the initial presentation.
As regards demographic data of 35 included patients, median (IQR) age of included patients were 18 (6-36) months, with median (IQR) age at initial presentation were 6 (3 -18) months, 57.1% (n=20) were males and 42.9% (n=15) female, 60.0% (n=21) were of first cousin consanguineous parents, 37.1% (n=13) had positive family history of similar condition, with 40.0% (n=14) had history of sibling death.
With further subgrouping of patients according to hepatic involvement into 2 groups, group A without hepatic involvement included 27 patients with HLH with median (IQR) age at initial presentation were 18 (3 -36) months, 40.0%(n=11) were females and 59.3% (n=16) males, 63.0%(n=17) had first cousin consanguineous parents, and 40.7%(n=11) had positive family history, 40.7%(n=11) sibling death. group B with hepatic involvement included 8 patients with HLH with median (IQR) age at initial presentation were 18 (12.5-30) months, with 50.0%(n=4) females and 50.0%(n=4)males, 50.0%(n=4)were of first cousin consanguineous parents, 25.0%(n=2) showed positive family history, with 37.5%(n=3)sibling death.
In our study 62.9% (n= 20) of included patients were genetically confirmed 1ry HLH and 34.3% (n=12) of them had MUNC13D mutation,8.6% (n= 3) had STXBP2 mutation and 14.3% (n=5) had RAB27A mutation while 11.4%(n=4) had secondary HLH and 11.4%(n=6) HLH type wasn’t classified.
group A showed that 66.7% (n=18) of included patients were genetically confirmed 1ry HLH and 37.0% (n=10) of them had MUNC13D mutation, 3.7% (n= 1) had STXBP2 mutation and 18.5% (n=5) had RAB27A mutation while 11.1%(n=3) had secondary HLH and 7.4%(n=2) HLH type wasn’t classified, while group B showed 50.0% (n=4) of included patients were genetically confirmed 1ry HLH and 25.0% (n=2) of them had MUNC13D mutation, 25.0% (n= 2) had STXBP2 mutation and 0.0% (n=0) had RAB27A mutation while 28.6%(n=2) had secondary HLH and 25.0%(n=2) HLH type wasn’t classified, both studied groups showed no significant difference according to frequency of genetically confirmed HLH.
The outcome of included patients the 1 year survival was 40.0%, with median overall survival rate of 7.5 months, only 6 patients underwent HSCT, this high mortality rate can be attributed to unavailability of HSCT with some of genetically diagnosed HLH.