Laboratory parameters identify familial haemophagocytic lymphohistiocytosis from other forms of paediatric haemophagocytosis.
Haemophagocytic lymphohistiocytosis (HLH) is a life-threatening syndrome of immune dysregulation and is classified as primary or secondary according to the underlying aetiology. The treatment strategies recommended for these two groups differ substantially; however, it is thought to be impossible to predict the underlying causes of HLH using conventional laboratory tests. Recent studies show that serum levels of soluble interleukin-2 receptor (sIL2R) and ferritin are useful for differentiating some forms of HLH. The present study reports that combinations of common laboratory parameters, such as the percentage of total lymphocytes within the peripheral blood leucocyte population, serum levels of lactate dehydrogenase and the sIL2R/ferritin ratio, are useful for identifying patients with familial haemophagocytic lymphohistiocytosis and for differentiating the underlying aetiology of paediatric HLH during the early course of the disease. These findings suggest that the pathogenesis of HLH differs greatly in terms of innate and adaptive immunity depending on the aetiology and may provide a new approach to unravelling the complex pathophysiology underlying this syndrome.
Department of Paediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Takahiro
T
Yasumi
Department of Paediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Masayuki
M
Hori
Department of Paediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Eitaro
E
Hiejima
Department of Paediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Hirofumi
H
Shibata
Department of Paediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Kazushi
K
Izawa
Department of Paediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.|Laboratory for Integrative Genomics, RIKEN Centre for Integrative Medical Sciences, Yokohama, Japan.
Hirotsugu
H
Oda
Department of Paediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Kouhei
K
Yoshioka
Department of Paediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Kenji
K
Nakagawa
Department of Paediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Tomoki
T
Kawai
Department of Paediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Ryuta
R
Nishikomori
Laboratory for Integrative Genomics, RIKEN Centre for Integrative Medical Sciences, Yokohama, Japan.|Department of Human Genome Research, KAZUSA DNA Research Institute, Kisarazu, Japan.
Osamu
O
Ohara
Department of Paediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Toshio
T
Heike
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D005293:Ferritins / Q000097:blood*; D006801:Humans; D006836:Hydro-Lyases / Q000097:blood*; D007223:Infant; D007231:Infant, Newborn; D007958:Leukocyte Count; D051359:Lymphohistiocytosis, Hemophagocytic / Q000097:blood*; D008297:Male; D015375:Receptors, Interleukin-2 / Q000097:blood*
D015375:Receptors, Interleukin-2; D005293:Ferritins; D006836:Hydro-Lyases; C045581:lactate dehydratase
common laboratory parameters; differential diagnosis; haemophagocytic lymphohistiocytosis; innate and adaptive immunity