Clinical characteristics and disease course in children with haemophagocytic lymphohistiocytosis treated at the University children’s hospital in Belgrade
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 wi...
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| Format: | Article |
| Language: | English |
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Serbian Medical Society
2012-01-01
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| Series: | Srpski Arhiv za Celokupno Lekarstvo |
| Subjects: | |
| Online Access: | http://www.doiserbia.nb.rs/img/doi/0370-8179/2012/0370-81791204191K.pdf |
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| author | Krivokapić-Dokmanović Lidija Krstovski Nada Janković Srđa Lazić Jelena Radlović Nedeljko Janić Dragana |
| author_facet | Krivokapić-Dokmanović Lidija Krstovski Nada Janković Srđa Lazić Jelena Radlović Nedeljko Janić Dragana |
| author_sort | Krivokapić-Dokmanović Lidija |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-24T05:02:49Z |
| format | Article |
| id | doaj.art-e7c51887bcf94c8fb5644f7636fc4edb |
| institution | Directory Open Access Journal |
| issn | 0370-8179 |
| language | English |
| last_indexed | 2024-12-24T05:02:49Z |
| publishDate | 2012-01-01 |
| publisher | Serbian Medical Society |
| record_format | Article |
| series | Srpski Arhiv za Celokupno Lekarstvo |
| spelling | doaj.art-e7c51887bcf94c8fb5644f7636fc4edb2022-12-21T17:13:57ZengSerbian Medical SocietySrpski Arhiv za Celokupno Lekarstvo0370-81792012-01-011403-419119710.2298/SARH1204191KClinical characteristics and disease course in children with haemophagocytic lymphohistiocytosis treated at the University children’s hospital in BelgradeKrivokapić-Dokmanović LidijaKrstovski NadaJanković SrđaLazić JelenaRadlović NedeljkoJanić DraganaIntroduction. 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.http://www.doiserbia.nb.rs/img/doi/0370-8179/2012/0370-81791204191K.pdfhaemophagocytic lymphohistiocytosischildrentreatment |
| spellingShingle | Krivokapić-Dokmanović Lidija Krstovski Nada Janković Srđa Lazić Jelena Radlović Nedeljko Janić Dragana Clinical characteristics and disease course in children with haemophagocytic lymphohistiocytosis treated at the University children’s hospital in Belgrade Srpski Arhiv za Celokupno Lekarstvo haemophagocytic lymphohistiocytosis children treatment |
| title | Clinical characteristics and disease course in children with haemophagocytic lymphohistiocytosis treated at the University children’s hospital in Belgrade |
| title_full | Clinical characteristics and disease course in children with haemophagocytic lymphohistiocytosis treated at the University children’s hospital in Belgrade |
| title_fullStr | Clinical characteristics and disease course in children with haemophagocytic lymphohistiocytosis treated at the University children’s hospital in Belgrade |
| title_full_unstemmed | Clinical characteristics and disease course in children with haemophagocytic lymphohistiocytosis treated at the University children’s hospital in Belgrade |
| title_short | Clinical characteristics and disease course in children with haemophagocytic lymphohistiocytosis treated at the University children’s hospital in Belgrade |
| title_sort | clinical characteristics and disease course in children with haemophagocytic lymphohistiocytosis treated at the university children s hospital in belgrade |
| topic | haemophagocytic lymphohistiocytosis children treatment |
| url | http://www.doiserbia.nb.rs/img/doi/0370-8179/2012/0370-81791204191K.pdf |
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