[Haemophagocytic syndromes: The importance of early diagnosis and treatment]

Abstract

Haemophagocytic syndrome, or haemophagocytic lymphohistiocytosis (HLH), is a disorder with high mortality, typically recognised at paediatric age. Without proper treatment, HLH can be fatal. The risk of a rapid progression to multi-organ failure and central nervous system involvement leading to long-term sequelae, are the most feared consequences of a diagnostic delay. Therefore, HLH is a medical emergency that paediatricians should be able to identify in a patient with fever and progressive worsening of general condition. The application of the HLH diagnostic criteria, which include clinical and analytical data (as well as a bone marrow aspirate), and the search for a trigger (infectious, oncological, rheumatological, or metabolic). These are decisive for the establishment of a targeted treatment, which aims at neutralising the trigger and reducing the hyper-inflammation. The most relevant data for general paediatricians are presented in this review, including the physiopathology, diagnosis, and treatment of this serious disease.

Keywords: Familial haemophagocytic lymphohistiocytosis; HLH; Haemophagocytic lymphohistiocytosis; Haemophagocytic syndrome; Histiocitosis; Histiocytosis; Inmunodeficiencia primaria; Linfohistiocitosis hemofagocítica; Linfohistiocitosis hemofagocítica familiar; MAS; Macrophage activation syndrome; Primary immunodeficiency; SAM; Sepsis; Síndrome de activación macrofágica; Síndrome hemofagocítico.