AUTHOR=Alsohime Fahad , Temsah Mohamad-Hani , Alotaibi Rawan M. , Alhalabi Reham M. , AlEnezy Sarah , Yousef Aly Abdelrahman , Alzaydi Abdullah Mohammed , Inany Hussam Sameer , Al-Eyadhy Ayman , Almazyad Mohammed , Alharbi Ali , Alsoqati Abdulaziz Abdullah , Andijani Abdurahman , Abu Ghazal Mohammed , El Masri Kamal , Doussouki Maher , Butt Raheel Farooq , Alshehri Saleh , Alsatrawi Mohammed , Macarambon Jaramia , Hasan Gamal M. , Alsultan Abdulrahman 

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

JOURNAL=Frontiers in Pediatrics

VOLUME=11

YEAR=2023

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2023.1152409

DOI=10.3389/fped.2023.1152409

ISSN=2296-2360

ABSTRACT=<sec><title>Objectives</title><p>We aimed to describe Familial Hemophagocytic Lymphohistiocytosis (F-HLH) patients' clinical features, intensive care courses, and outcomes.</p></sec><sec><title>Methods</title><p>Multi-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.</p></sec><sec><title>Results</title><p>Fifty-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 &gt;500 mg/dl, hypertriglyceridemia &gt;150 mg/dl and hemophagocytosis in bone marrow biopsy. Compared to deceased patients 18 (31%), survivors had significantly lower PT (<italic>p</italic> = 041), bilirubin level of &lt;34.2 mmol/L (<italic>p</italic> = 0.042), higher serum triglyceride level (<italic>p</italic> = 0.036), and lesser bleeding within the initial 6 h of admission (<italic>p</italic> = 0.004). Risk factors for mortality included requirements of higher levels of hemodynamic (61.1% vs. 17.5%, <italic>p</italic> = 0.001) and respiratory (88.9% vs. 37.5%, <italic>p</italic> &lt; 0.001) support, and positive fungal cultures (<italic>p</italic> = 0.046).</p></sec><sec><title>Conclusions</title><p>Familial HLH still represents a challenge in the pediatric critical care setting. Earlier diagnosis and prompt initiation of appropriate treatment could improve F-HLH survival.</p></sec>