title: Extreme Hypertriglyceridemia in an Infant with Hemophagocytic Lymphohistiocytosis and Hydroxycobalamin Deficiency.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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, slL-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.
  
  
  CONCLUSIONS
  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.
authors.forename: Lidija
authors.initials: L
authors.lastname: Dokmanović
authors.forename: Nada
authors.initials: N
authors.lastname: Krstovski
authors.forename: Jelena
authors.initials: J
authors.lastname: Lazić
authors.forename: Predrag
authors.initials: P
authors.lastname: Rodić
authors.forename: Goran
authors.initials: G
authors.lastname: Milosević
authors.forename: Srdja
authors.initials: S
authors.lastname: Janković
authors.forename: Dragana
authors.initials: D
authors.lastname: Janić
mesh_terms: D006801:Humans; D006879:Hydroxocobalamin / Q000378:metabolism*; D015228:Hypertriglyceridemia / Q000175:diagnosis / Q000209:etiology*; D007223:Infant; D051359:Lymphohistiocytosis, Hemophagocytic / Q000150:complications / Q000175:diagnosis*; D008297:Male; D014806:Vitamin B 12 Deficiency / Q000150:complications / Q000175:diagnosis*
chemical_list: D006879:Hydroxocobalamin