JBCGenetics |

Case Report

Published: Jun 30, 2025 | DOI: 10.24911/JBCGenetics.183-1743653479

Early-onset lipoprotein lipase deficiency: detailed analysis of severe hypertriglyceridemia and recurrent necrotizing pancreatitis

Authors: Mohammed Alhussain Mahnashi , Ismail Washili , Mohammed Swaid

Article Info

Authors

Mohammed Alhussain Mahnashi

Genetic/Metabolic Unit, King Fahad Central Hospital, Jazan, Saudi Arabia

ORCID

Ismail Washili

Metabolic Dietitian Unit, King Fahad Central Hospital, Jazan, Saudi Arabia

Mohammed Swaid

Pediatric Endocrine Unit, King Fahad Central Hospital, Jazan, Saudi Arabia

Publication History

Received: April 03, 2025

Accepted: June 30, 2025

Published: June 30, 2025

Abstract

Background: Lipoprotein lipase deficiency (LPLD) is an exceedingly rare autosomal recessive disorder characterized by severe hypertriglyceridemia and significant clinical complications, notably recurrent acute pancreatitis.

Case Presentation: We present the detailed case of a Saudi girl who initially exhibited severe hypertriglyceridemia at 3 months old and received a genetic diagnosis at 8 months, confirming homozygous LPL deficiency (variant c.765_766del). Despite rigorous dietary management and medium-chain triglyceride supplementation, she experienced multiple episodes of necrotizing pancreatitis.

Conclusion: This report underscores the essential role of early genetic confirmation, rigorous dietary management, multidisciplinary care, and explores emerging treatment strategies for LPLD.

Keywords: Lipoprotein lipase deficiency, hypertriglyceridemia, pancreatitis, MCT supplementation, autosomal recessive, case report.

Pubmed Style

Mohammed Alhussain Mahnashi, Ismail Washili, Mohammed Swaid. Early-onset lipoprotein lipase deficiency: detailed analysis of severe hypertriglyceridemia and recurrent necrotizing pancreatitis. JBC Genetics. 2025; 30 (June 2025): -. doi:10.24911/JBCGenetics.183-1743653479

Web Style

Mohammed Alhussain Mahnashi, Ismail Washili, Mohammed Swaid. Early-onset lipoprotein lipase deficiency: detailed analysis of severe hypertriglyceridemia and recurrent necrotizing pancreatitis. https://www.jbcgenetics.com/articles/2291 [Access: July 31, 2025]. doi:10.24911/JBCGenetics.183-1743653479

AMA (American Medical Association) Style

Vancouver/ICMJE Style

Mohammed Alhussain Mahnashi, Ismail Washili, Mohammed Swaid. Early-onset lipoprotein lipase deficiency: detailed analysis of severe hypertriglyceridemia and recurrent necrotizing pancreatitis. JBC Genetics. (2025), [cited July 31, 2025]; 30 (June 2025): -. doi:10.24911/JBCGenetics.183-1743653479

Harvard Style

Mohammed Alhussain Mahnashi, Ismail Washili, Mohammed Swaid (2025) Early-onset lipoprotein lipase deficiency: detailed analysis of severe hypertriglyceridemia and recurrent necrotizing pancreatitis. JBC Genetics, 30 (June 2025): -. doi:10.24911/JBCGenetics.183-1743653479

Chicago Style

Mohammed Alhussain Mahnashi, Ismail Washili, Mohammed Swaid. "Early-onset lipoprotein lipase deficiency: detailed analysis of severe hypertriglyceridemia and recurrent necrotizing pancreatitis." 30 (2025), -. doi:10.24911/JBCGenetics.183-1743653479

MLA (The Modern Language Association) Style

Mohammed Alhussain Mahnashi, Ismail Washili, Mohammed Swaid. "Early-onset lipoprotein lipase deficiency: detailed analysis of severe hypertriglyceridemia and recurrent necrotizing pancreatitis." 30.June 2025 (2025), -. Print. doi:10.24911/JBCGenetics.183-1743653479

APA (American Psychological Association) Style

Mohammed Alhussain Mahnashi, Ismail Washili, Mohammed Swaid (2025) Early-onset lipoprotein lipase deficiency: detailed analysis of severe hypertriglyceridemia and recurrent necrotizing pancreatitis. , 30 (June 2025), -. doi:10.24911/JBCGenetics.183-1743653479