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
Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Pediatric Intensive Care Unit, Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia.
Front Pediatr. 2023 Apr 18;11:1152409. doi: 10.3389/fped.2023.1152409. eCollection 2023.
We aimed to describe Familial Hemophagocytic Lymphohistiocytosis (F-HLH) patients' clinical features, intensive care courses, and outcomes.
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.
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 >500 mg/dl, hypertriglyceridemia >150 mg/dl and hemophagocytosis in bone marrow biopsy. Compared to deceased patients 18 (31%), survivors had significantly lower PT ( = 041), bilirubin level of <34.2 mmol/L ( = 0.042), higher serum triglyceride level ( = 0.036), and lesser bleeding within the initial 6 h of admission ( = 0.004). Risk factors for mortality included requirements of higher levels of hemodynamic (61.1% vs. 17.5%, = 0.001) and respiratory (88.9% vs. 37.5%, < 0.001) support, and positive fungal cultures ( = 0.046).
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.
我们旨在描述家族性噬血细胞性淋巴组织细胞增生症（F-HLH）患者的临床特征、重症监护病程及预后。
对2015年至2020年在沙特阿拉伯五个三级中心诊断为F-HLH的儿科患者进行多中心回顾性队列研究。根据已知突变的基因确认或临床标准将患者分类为F-HLH，临床标准包括一系列异常、疾病早期发作、无其他病因的复发性HLH或HLH家族史。
纳入58例患者（男28例，女30例），平均年龄21.0±33.9个月。最常见的主要诊断是血液学或免疫功能障碍（39.7%），其次是13例（22.4%）患者出现心血管功能障碍。发热是最常见的临床表现，占27.6%，其次是惊厥（13.8%）和出血（13.8%）。20例患者（34.5%）有脾肿大，超过70%的患者血清铁蛋白>500mg/dl、高甘油三酯血症>150mg/dl且骨髓活检有噬血细胞现象。与死亡患者18例（31%）相比，存活患者的凝血酶原时间显著更低（=0.41）、胆红素水平<34.2mmol/L（=0.042）、血清甘油三酯水平更高（=0.036）且入院后最初6小时内出血更少（=0.004）。死亡的危险因素包括需要更高水平的血流动力学支持（61.1%对17.5%，=0.001）和呼吸支持（88.9%对37.5%，<0.001）以及真菌培养阳性（=0.046）。
家族性HLH在儿科重症监护环境中仍然是一个挑战。早期诊断并及时开始适当治疗可提高F-HLH的生存率。
