doiSerbia

Extreme hypertriglyceridemia in an infant with hemophagocytic lymphohistiocytosis and hydroxycobalamin deficiency

Dokmanović Lidija (School of Medicine, Belgrade + University Children’s Hospital, Belgrade)
Krstovski Nada (School of Medicine, Belgrade + University Children’s Hospital, Belgrade)
Lazić Jelena (School of Medicine, Belgrade + University Children’s Hospital, Belgrade)
Rodić Predrag (School of Medicine, Belgrade + University Children’s Hospital, Belgrade)
Milošević Goran (University Children’s Hospital, Belgrade)
Janković Srđa (University Children’s Hospital, Belgrade)
Janić Dragana (School of Medicine, Belgrade + University Children’s Hospital, Belgrade)

Introduction. Hemophagocytic lymphohistiocytosis (HLH) is a severe hyperinflammatory condition characterized by fever, cytopenias, hepatosplenomegaly and hemophagocytosis. HLH may be primary or secondary to infection, autoimmune disease or malignancy. Hypertriglyceridemia is a common abnormality in HLH and one of the HLH-2004 diagnostic criteria. Case Outline. We present an infant with severe hypotonia and hypoproteinemic edema who also had extreme hypertriglyceridemia (21 mmol/l) and was diagnosed with HLH based on six of eight HLH- 2004 criteria (fever, hepatosplenomegaly, bicytopenia, hypertriglyceridemia with hypofibrinogenemia, sIL-2R > 2400 IU/ml, hemophagocytosis). The presence of IgM antibodies to Epstein-Barr virus and cytomegalovirus indicated a probable infectious trigger. The child was cured by the HLH-2004 protocol for secondary HLH (consisting of dexamethasone and cyclosporine). He was also found to have low serum hydroxycobalamin levels, promptly corrected upon hydroxycobalamin administration. Conclusion. The presented case history underlines the need to ascertain the presence or absence of each of the eight HLH-2004 criteria in any patient suspected to suffer from HLH.

Keywords: hemophagocytic lymphohistiocytosis, infant, hypertriglyceridemia, hydroxycobalam indeficiency

Projekat Ministarstva nauke Republike Srbije, br. 41004