Transient lipoprotein lipase deficiency with hyperchylomicronemia

Area of Science:

• Biochemistry
• Genetics
• Internal Medicine

Background:

• Type I hyperlipoproteinemia is a rare genetic disorder.
• Characterized by chylomicrons in fasting plasma and lipoprotein lipase (LPL) system dysfunction.
• Caused by LPL enzyme defects or apolipoprotein C-II deficiency, or secondary to other diseases.

Observation:

• A case of hyperchylomicronemia and pancreatitis with absent LPL activity was observed.
• Assessed via three distinct biochemical methods.
• Patient showed no LPL inactivator and normal hepatic triglyceride lipase; systemic diseases were ruled out.

Findings:

• The patient's condition temporarily mimicked primary LPL deficiency.
• Post-treatment, lipoprotein levels and LPL activity normalized within six weeks.
• Unique presentation of transient hyperchylomicronemia.

Implications:

• Highlights the complexity of diagnosing LPL-related disorders.
• Suggests transient LPL dysfunction can occur.
• Underscores the importance of serial monitoring in hyperlipoproteinemia cases.