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Hypertriglyceridaemia unresponsive to multiple treatments.

James M Backes1, Thomas D Dayspring2, Daniel M Hoefner3

  • 1Department of Pharmacy Practice, University of Kansas School of Pharmacy, Kansas City, Kansas, USA.

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|October 16, 2015
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Summary
This summary is machine-generated.

A rare genetic condition, glycerol kinase deficiency (GKD), can cause falsely high triglyceride levels. Recognizing this pseudohypertriglyceridaemia prevents unnecessary treatments and miscalculated cardiovascular risks.

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Area of Science:

  • Biochemistry
  • Clinical Lipidology
  • Medical Genetics

Background:

  • Hypertriglyceridaemia is a common lipid disorder often requiring management to reduce cardiovascular risk.
  • Standard laboratory triglyceride measurements can be affected by interfering substances.

Observation:

  • A patient presented with persistently high serum triglyceride levels unresponsive to therapy.
  • The patient's serum sample appeared clear, inconsistent with severe hypertriglyceridaemia.
  • Specialized glycerol blank testing revealed a significantly lower, true triglyceride value.

Findings:

  • The discrepancy indicated pseudohypertriglyceridaemia, caused by elevated serum glycerol.
  • This pattern is characteristic of isolated asymptomatic glycerol kinase deficiency (GKD).
  • GKD leads to inaccurate triglyceride quantification in standard assays.

Implications:

  • Accurate diagnosis of GKD is crucial to avoid unnecessary lipid-lowering treatments.
  • Preventing overtreatment avoids potential side effects and healthcare costs.
  • Correctly assessing lipid profiles prevents overestimation of cardiovascular disease risk in affected individuals.