doiSerbia

Clinical characteristics and disease course in children with haemophagocytic lymphohistiocytosis treated at the University children’s hospital in Belgrade

Krivokapić-Dokmanović Lidija (Medicinski fakultet, Beograd + Univerzitetska dečja klinika, Beograd)
Krstovski Nada (Medicinski fakultet, Beograd + Univerzitetska dečja klinika, Beograd)
Janković Srđa (Univerzitetska dečja klinika, Beograd)
Lazić Jelena (Univerzitetska dečja klinika, Beograd)
Radlović Nedeljko (Medicinski fakultet, Beograd + Univerzitetska dečja klinika, Beograd)
Janić Dragana (Medicinski fakultet, Beograd + Univerzitetska dečja klinika, Beograd)

Introduction. Haemophagocytic lymphohistiocytosis (HLH) is a disorder characterised by long-standing fever, splenomegaly and bicytopoenia or pancytopoenia. Lymphadenopathy, jaundice and neurological symptoms may also occur. HLH may ensue in various forms of innate or acquired immunodeficiency with impaired cytotoxic lymphocyte function resulting in excessive macrophage activation. Objective. To describe and analyse clinical characteristics of patients treated for HLH at the University Children’s Hospital of Belgrade from August 2000 to August 2010. Methods. Retrospective analysis of medical records. Results. Diagnosis of HLH was established in 13 children (five boys and eight girls) aged from one month to 14 years. In six children HLH was secondary (to visceral leishmaniasis in two, Ebstein-Barr virus infection in one, Langerhans’ cell histiocytosis in one and systemic juvenile rheumatoid arthritis in two). Of the remaining seven patients, genes for perforin and syntaxin 11 were examined in two and no mutations were found. Of the remaining seven patients, genes encoding perforin and syntaxin 11 were analyzed in two, but no mutations were found. All children had fever, splenomegaly, cytopoenias, hyperferritinaemia and hypertriglyceridaemia, but haemophagocytosis was seen in only six (46.1%). Six children were cured (four with secondary HLH and two with primary HLH). Two children are undergoing treatment, while five succumbed (three before treatment could be administered and two due to complications). In four of the six cured children, HLH arose in the first year of life. Cure rate in those who underwent haematopoietic stem cell trans- plantation was 2/3. Conclusion. Results underscore the importance of timely diagnosis and treatment of HLH, warranting that in all children with fever, splenomegaly and/or cytopoenias, with or without haemophagocytosis, HLH be actively sought.

Keywords: haemophagocytic lymphohistiocytosis, children, treatment