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

被引：6

作者：

Alsohime, Fahad ^{[1
,2
]}

Temsah, Mohamad-Hani ^{[1
,2
,3
]}

Alotaibi, Rawan M. ^{[4
]}

Alhalabi, Reham M. ^{[4
]}

AlEnezy, Sarah ^{[4
]}

Yousef, Aly Abdelrahman ^{[5
,6
]}

Alzaydi, Abdullah Mohammed ^{[5
]}

Inany, Hussam Sameer ^{[5
]}

Al-Eyadhy, Ayman ^{[1
,2
]}

Almazyad, Mohammed ^{[1
,2
]}

Alharbi, Ali ^{[7
]}

Alsoqati, Abdulaziz Abdullah ^{[7
]}

Andijani, Abdurahman ^{[7
]}

Abu Ghazal, Mohammed ^{[7
]}

El Masri, Kamal ^{[8
]}

Doussouki, Maher ^{[9
]}

Butt, Raheel Farooq ^{[10
]}

Alshehri, Saleh ^{[10
]}

Alsatrawi, Mohammed ^{[1
,2
]}

Macarambon, Jaramia ^{[1
]}

Hasan, Gamal M. ^{[11
,12
]}

Alsultan, Abdulrahman ^{[1
,13
]}

机构：

[1] King Saud Univ, Coll Med, Dept Pediat, Riyadh, Saudi Arabia

[2] King Saud Univ Med City, Dept Pediat, Pediat Intens Care Unit, Riyadh, Saudi Arabia

[3] King Saud Univ, Coll Med, Prince Abdullah Bin Khaled Coeliac Dis Res Chair, Dept Pediat, Riyadh, Saudi Arabia

[4] King Saud Univ Med City, Coll Med, Riyadh, Saudi Arabia

[5] King Faisal Specialist Hosp & Res Ctr, Res Ctr, Dept Pediat, Div Pediat Crit Care, Jeddah, Saudi Arabia

[6] Helwan Univ, Fac Med, Dept Pediat, Cairo, Egypt

[7] King Fahad Med City, Specialized Children Hosp, Pediat Crit Care Div, Riyadh, Saudi Arabia

[8] King Fahad Specialist Hosp, Pediat Intens Care Unit, Dammam, Saudi Arabia

[9] King Fahad Specialist Hosp, Pediat Hematol & Oncol Dept, Dammam, Saudi Arabia

[10] King Saud Med City, Pediat Crit Care Div, Riyadh, Saudi Arabia

[11] Assiut Univ, Assiut Fac Med, Pediat Dept, Assiut, Egypt

[12] Sheikh Shakhbout Med City, Pediat Dept, Pediat Intens Care Unit, Abu Dhabi, U Arab Emirates

[13] King Saud Univ Med City, Ctr Oncol, Riyadh, Saudi Arabia

来源：

FRONTIERS IN PEDIATRICS | 2023年 / 11卷

关键词：

F-HLH; familial hemophagocytic lymphohistiocytosis; S-HLH; secondary hemophagocytic lymphohistiocytosis; hemophagocytic syndrome; pediatrics; intensive care; clinical features; RISK-FACTORS; CASE-SERIES; CHILDREN; EPIDEMIOLOGY; GUIDELINES; DIAGNOSIS; HLH;

D O I：

10.3389/fped.2023.1152409

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

引用

页数：9

共 41 条

[1]

Adam M.P., 2022, GeneReviews

[2] Genetic and clinical characteristics of pediatric patients with familial hemophagocytic lymphohistiocytosis [J].