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. © 2012 Elsevier Ireland Ltd.

A three month-old infant with severe hyperchylomicronemia: Molecular diagnosis and extracorporeal treatment / Stefanutti, Claudia; Maria, Gozzer; Livia, Pisciotta; D'Eufemia, Patrizia; Bosco, Giovanna; Morozzi, Claudia; Francesco, Papadia; Manhaz, Shafii; DI GIACOMO, Serafina; Stefano, Bertolini. - In: ATHEROSCLEROSIS SUPPLEMENTS. - ISSN 1567-5688. - STAMPA. - 14:1(2013), pp. 73-76. [10.1016/j.atherosclerosissup.2012.10.020]

A three month-old infant with severe hyperchylomicronemia: Molecular diagnosis and extracorporeal treatment

STEFANUTTI, Claudia;D'EUFEMIA, Patrizia;BOSCO, Giovanna;MOROZZI, CLAUDIA;DI GIACOMO, SERAFINA;
2013

Abstract

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. © 2012 Elsevier Ireland Ltd.
2013
hyperchylomicronemia; plasma-exchange; chylomicronaemia; severe hypertriglyceridemia; dyslipidemia infant; lipoprotein lipase mutation
01 Pubblicazione su rivista::01a Articolo in rivista
A three month-old infant with severe hyperchylomicronemia: Molecular diagnosis and extracorporeal treatment / Stefanutti, Claudia; Maria, Gozzer; Livia, Pisciotta; D'Eufemia, Patrizia; Bosco, Giovanna; Morozzi, Claudia; Francesco, Papadia; Manhaz, Shafii; DI GIACOMO, Serafina; Stefano, Bertolini. - In: ATHEROSCLEROSIS SUPPLEMENTS. - ISSN 1567-5688. - STAMPA. - 14:1(2013), pp. 73-76. [10.1016/j.atherosclerosissup.2012.10.020]
File allegati a questo prodotto
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/468075
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo

Citazioni
  • ???jsp.display-item.citation.pmc??? 9
  • Scopus 23
  • ???jsp.display-item.citation.isi??? 24
social impact