Abstract
Severe hypertriglyceridemia (sHTG) (plasma triglyceride level > 10 mmol/L) due to lipoprotein lipase (LPL) deficiency is a known risk factor for acute pancreatitis. A 23-day-old male with sHTG was admitted to the Neonatal Intensive Care Unit for plasmapheresis being at high risk for acute pancreatitis. Given the potential hazard of an extracorporeal technique in a very young infant, we decided to perform an exchange transfusion (ET), a procedure widely used by neonatologists and less invasive than plasmapheresis. ET led to a dramatic reduction in plasma triglyceride level, from 93.2 to 3.8 mmol/L at the end of the procedure, without adverse events. The subsequent administration of a special formula low in fat and high in medium-chain triglycerides was effective in keeping fasting plasma triglyceride level below 5.6 mmol/L during the first 5 months of life. The sequence of LPL gene revealed that the patient was apparently homozygous for a novel nucleotide deletion (c.840delG) in exon 6 leading to a premature termination codon (p.N281Mfs*23). However, family studies revealed that while the patient’s mother was heterozygous for this mutation, the father was heterozygous for a novel deletion eliminating the whole LPL gene. The patient therefore turned out to be a compound heterozygous for two LPL gene mutations predicted to abolish LPL activity. This is the first case of sHTG treated with ET in a neonate reported in the literature. ET appears to be a safe procedure, alternative to plasmapheresis, to prevent acute pancreatitis in young infants with sHTG due to LPL deficiency.
Competing interests: None declared
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Acknowledgments
The authors would like to thank the patient and his family for their participation, Dr. Paolo Ernesto Villani (NICU, Department Mother and Children, Hospital “C. Poma”, Mantua, Italy) for getting the patient transferred to our NICU, Dr. Gianluigi Ardissino (Unit of Pediatric Nephrology, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy) for helping us in evaluating different therapeutic options.
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Communicated by: Alberto B Burlina, MD
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Synopsis
Exchange transfusion appears to be a safe procedure, alternative to plasmapheresis, to prevent acute pancreatitis in young infants with severe hypertriglyceridemia due to lipoprotein lipase deficiency.
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Lorenza Pugni, Enrica Riva, Carlo Pietrasanta, Claudio Rabacchi, Stefano Bertolini, Cristina Pederiva, Fabio Mosca, and Sebastiano Calandra declare that they have no conflict of interest.
Informed Consent
All procedures followed were in accordance with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from patient’s parents for being included in the study. This manuscript is a case report containing no identifying patient information, and examinations and treatment of the patient fall in clinical practice.
Authors’ Contributions
Lorenza Pugni, Carlo Pietrasanta, and Fabio Mosca designed the study, performed the blood exchange transfusion and collected the data. Enrica Riva and Cristina Pederiva followed up the patient after the discharge. Sebastiano Calandra, Claudio Rabacchi, and Stefano Bertolini performed the molecular investigation and analyzed the molecular data. Lorenza Pugni and Sebastiano Calandra wrote the manuscript.
Funding Support
Genetic analysis was supported in part by a grant from Emilia-Romagna Region: RARER – Area1 (E35E09000880002) project to Sebastiano Calandra.
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Pugni, L. et al. (2013). Severe Hypertriglyceridemia in a Newborn with Monogenic Lipoprotein Lipase Deficiency: An Unconventional Therapeutic Approach with Exchange Transfusion. In: Zschocke, J., Gibson, K., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports - Case and Research Reports, Volume 13. JIMD Reports, vol 13. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2013_272
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DOI: https://doi.org/10.1007/8904_2013_272
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