Document Detail

A three month-old infant with severe hyperchylomicronemia: Molecular diagnosis and extracorporeal treatment.
MedLine Citation:
PMID:  23357145     Owner:  NLM     Status:  In-Data-Review    
OBJECTIVE: Chylomicronemia syndrome presenting in childhood is a rare recessive disorder due to mutations of lipoprotein lipase (LPL) and more rarely of APOC2, APOA5, GPIHBP1 or LMF1 genes. It often requires urgent and suitable treatment to avoid acute pancreatitis. The aim of this study was the molecular characterization and treatment of a 3 month-old infant with plasma triglycerides (TG) > 300 mmol/L.
METHODS: All candidate genes were sequenced. The patient was submitted to one plasma-exchange (PEX) procedure and subsequently to a rigid lipid-lowering diet (milk: Monogen(®)).
RESULTS: The proband was homozygous for a novel LPL mutation (c.242G > A, p.G81D) which in silico results pathogenic. After PEX, which was well tolerated, TG dropped to 64 mmol/L. During 5-month follow-up there was a clear trend towards lower and stable TG values.
CONCLUSION: PEX is applicable in subjects with very low body weight when the extreme severity of the clinical picture has no therapeutic alternatives.
Claudia Stefanutti; Maria Gozzer; Livia Pisciotta; Patrizia D'Eufemia; Giovanna Bosco; Claudia Morozzi; Francesco Papadia; Manhaz Shafii; Serafina Di Giacomo; Stefano Bertolini
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Atherosclerosis. Supplements     Volume:  14     ISSN:  1878-5050     ISO Abbreviation:  Atheroscler Suppl     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-01-29     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100973461     Medline TA:  Atheroscler Suppl     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  73-6     Citation Subset:  IM    
Copyright Information:
Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.
Extracorporeal Therapeutic Unit, Immunohematology and Transfusion Medicine, Department of Molecular Medicine, University of Rome 'Sapienza', 'Umberto I' Hospital, 155, Viale del Policlinico, I-00161 Rome, Italy. Electronic address:
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