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

• Main Authors: Fahad Alsohime (Author), Mohamad-Hani Temsah (Author), Rawan M. Alotaibi (Author), Reham M. Alhalabi (Author), Sarah AlEnezy (Author), Aly Abdelrahman Yousef (Author), Abdullah Mohammed Alzaydi (Author), Hussam Sameer Inany (Author), Ayman Al-Eyadhy (Author), Mohammed Almazyad (Author), Ali Alharbi (Author), Abdulaziz Abdullah Alsoqati (Author), Abdurahman Andijani (Author), Mohammed Abu Ghazal (Author), Kamal El Masri (Author), Maher Doussouki (Author), Raheel Farooq Butt (Author), Saleh Alshehri (Author), Mohammed Alsatrawi (Author), Jaramia Macarambon (Author), Gamal M. Hasan (Author), Abdulrahman Alsultan (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary

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.

Item Description

2296-2360
10.3389/fped.2023.1152409