Presentations and outcomes of familial hemophagocytic lymphohistiocytosis in the pediatric intensive care units (PICUs)

Abstract

ObjectivesWe aimed to describe Familial Hemophagocytic Lymphohistiocytosis (F-HLH) patients' clinical features, intensive care courses, and outcomes.MethodsMulti-center retrospective cohort study of pediatric patients diagnosed with F-HLH from 2015 to 2020 in five tertiary centers in Saudi Arabia. Patients were classified as F-HLH based on their genetic confirmation of known mutation or on their clinical criteria, which include a constellation of abnormalities, early disease onset, recurrent HLH in the absence of other causes, or a family history of HLH.ResultsFifty-eight patients (28 male, 30 female), with a mean age of 21.0 ± 33.9 months, were included. The most common principal diagnosis was hematological or immune dysfunction (39.7%), followed by cardiovascular dysfunction in 13 (22.4%) patients. Fever was the most common clinical presentation in 27.6%, followed by convulsions (13.8%) and bleeding (13.8%). There were 20 patients (34.5%) who had splenomegaly, and more than 70% of patients had hyperferritinemia >500 mg/dl, hypertriglyceridemia >150 mg/dl and hemophagocytosis in bone marrow biopsy. Compared to deceased patients 18 (31%), survivors had significantly lower PT (p = 041), bilirubin level of <34.2 mmol/L (p = 0.042), higher serum triglyceride level (p = 0.036), and lesser bleeding within the initial 6 h of admission (p = 0.004). Risk factors for mortality included requirements of higher levels of hemodynamic (61.1% vs. 17.5%, p = 0.001) and respiratory (88.9% vs. 37.5%, p < 0.001) support, and positive fungal cultures (p = 0.046).ConclusionsFamilial HLH still represents a challenge in the pediatric critical care setting. Earlier diagnosis and prompt initiation of appropriate treatment could improve F-HLH survival.

Outcome and Prognostic Factors of Hemophagocytic Lymphohistiocytosis in Children: Experience From a Low- and Middle-Income Country

“…Mottaghipisheh et al, and Shazia et al, reported fever in nearly all of their patients, while Yong-hai Zhou et al reported a figure of 98.7% [ 8 , 15 , 19 ]. However, Alsohime et al reported fever in only 27.6% of patients, which was in contrast to our results [ 17 ]. Bruising was present in 14.8% of children in our study, which is in accordance with previous literature as narrated by Alsohime et al who reported bleeding in 13.8% [ 17 ].…”

“…FHLH was observed in only 5.5% of cases as all patients were not screened keeping in view the limitation of resources and huge financial burden of genetic testing. This number is quite higher in previous literature with Alsohime et al reporting 43% of cases of FHLH and 23.5% cases reported by Paul et al [ 3 , 17 ].…”

“…FHLH was observed in only 5.5% of cases as all patients were not screened keeping in view the limitation of resources and huge financial burden of genetic testing. This number is quite higher in previous literature with Alsohime et al reporting 43% of cases of FHLH and 23.5% cases reported by Paul et al[3,17].Seventeen children (15.7%) were diagnosed cases of Griscelli syndrome, which is a known association observed in previous literature. Sasan et al observed Griscelli syndrome in 12% of cases[14].…”

An Unusual Complication of Measles Infection in a Pediatric Patient: A Case Report of Measles-Induced Hemophagocytic Lymphohistiocytosis (HLH) From Jordan

“…Unfortunately, she deteriorated before she was started on chemotherapy. A timely diagnosis and the start of appropriate medication could increase the survival among HLH patients, especially those with other unmodifiable poor prognostic factors [high ferritin (>2,000 µg⁄L), respiratory failure, coagulopathy, neutropenia, and hypoalbuminemia], which were all present in our patient [ 16 ].…”

Cold Agglutinin Syndrome and Hemophagocytic Lymphohistiocytosis: An Unusual Combination Caused by Epstein–Barr Virus Infection

“…Secondary HLH is the term used in cases where a genetic cause is not identified [ 10 ]. It is important to consider the possibility of a genetic defect, as early diagnosis and initiation of adequate treatment seem to improve fHLH survival [ 11 ].…”