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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.

Idiopathic hypereosinophilic syndrome in children is a rare disease. Even with improved understanding of eosinophilic disorders and recent advances in diagnostic modalities, evaluation of hypereosinophilia remains challenging due to heterogeneous etiologic factors. In acute clinical settings, the management plan is often unclear as the condition is not encountered frequently. It is often associated with leucocytosis, but hyperleucocytosis causing multiorgan dysfunction in the absence of malignancy is rarely seen. A previously well 5-year-old boy presented to our emergency room with a 2-week history of fever, progressive cough and dyspnoea, rapidly progressing to respiratory failure and acute respiratory distress syndrome. Hyperleucocytosis with hypereosinophilia on peripheral blood film, bilateral pulmonary infiltrates on X-ray and ground glass opacities suggested hypereosinophilic syndrome with secondary acute respiratory distress syndrome. Owing to severe and rapidly increasing leucocytosis, malignancy was highly suspected, but it was ruled out along with secondary hypereosinophilic syndrome after extensive investigations, and acute respiratory distress syndrome in this child was attributed to Idiopathic Hypereosinophilic Syndrome. Eosinophilia had a dramatic response to high dose corticosteroid therapy. To conclude, in patients with hypereosinophilic syndrome, possibility of progression to acute respiratory distress syndrome should be anticipated and managed accordingly.