SUMMARY PRIMARY HYPERTRIGLYCERIDEMIA RESULTING FROM A MUTATION IN THE LPL GENE

Khánh Nguyễn Ngọc, Ngọc Cấn Thị Bích

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Abstract

Background: Hypertriglyceridemia due to lipoprotein lipase (LPL) gene mutation is a rare genetic disorder that can lead to life-threatening acute pancreatitis complications. Objective: To describe the clinical, biochemical, genotypic characteristics, and outcomes of patients with elevated triglycerides related to LPL gene variants at the Vietnam National Children’s Hospital. Methods: Case series report. Results: The age of diagnosis ranged from infancy to 6 years; all three patients exhibited severe hypertriglyceridemia (16.34 - 136.35 mmol/L), with one patient experiencing acute pancreatitis. Genetic analysis revealed that the patients carried homozygous/heterozygous variants of the LPL gene. Blood triglyceride levels decreased after implementing a lipid-restricted diet. Conclusion: Clinical manifestations may be subtle, and acute pancreatitis complications can occur with severe and prolonged hypertriglyceridemia. Patients responded well to dietary management.

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References

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