Extreme hypertriglyceridemia in an infant with hemophagocytic lymphohistiocytosis and hydroxycobalamin deficiency
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 abn...
Main Authors: | , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Serbian Medical Society
2015-01-01
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Series: | Srpski Arhiv za Celokupno Lekarstvo |
Subjects: | |
Online Access: | http://www.doiserbia.nb.rs/img/doi/0370-8179/2015/0370-81791512744D.pdf |
Summary: | 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. [Projekat Ministarstva nauke Republike Srbije, br. 41004] |
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ISSN: | 0370-8179 2406-0895 |