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Published on: June 5, 2014
A three month-old infant with severe hyperchylomicronemia: molecular diagnosis and extracorporeal treatment
Claudia Stefanutti1, Maria Gozzer, Livia Pisciotta
1Extracorporeal 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. claudia.stefanutti@uniroma1.it
Insights
Chylomicronemia syndrome in infants, a rare genetic disorder, was treated with plasma exchange (PEX). This intervention effectively lowered high triglyceride levels, offering a life-saving option for severe cases.
Area of Science:
- Genetics
- Biochemistry
- Pediatrics
Background:
- Chylomicronemia syndrome (CS) is a rare, severe genetic disorder.
- It is caused by mutations in genes like lipoprotein lipase (LPL), leading to extremely high triglyceride (TG) levels.
- CS in infants necessitates prompt treatment to prevent life-threatening complications such as acute pancreatitis.
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.
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