You are here

Article Text

Article menu
Download PDFPDF
Case Reports: Rare disease
Pseudo-hypertriglyceridaemia in glycerol kinase deficiency misdiagnosed and treated as true hypertriglyceridaemia
  1. Vivek Pant1,
  2. Devish Pyakurel2,
  3. Keyoor Gautam2 and
  4. Santosh Pradhan1
  1. 1Clinical Biochemistry, Samyak Diagnostic Pvt Ltd, Kathmandu, Nepal
  2. 2Pathology, Samyak Diagnostic Pvt Ltd, Kathmandu, Nepal
  1. Correspondence to Dr Vivek Pant; drvpant{at}gmail.com

Abstract

High triglyceride in a serum sample with no apparent visible lipaemia is a confusing laboratory condition. This condition of apparent hypertriglyceridaemia might be an asymptomatic condition of pseudo-hypertriglyceridaemia which is seen in individuals with glycerol kinase deficiency. Glycerol is increased in glycerol kinase deficiency, therefore biochemical analysers that measure glycerol to estimate triglyceride report high triglyceride values. Clinicians are often unaware of this laboratory condition; as a result, patients are subjected to aggressive hypolipidaemic drugs and lifestyle changes, and these measures turn ineffective to lower triglyceride levels. In this report, a case of a 50-year-old Nepalese male is presented with an apparent hypertriglyceridaemia refractory to various hypolipidaemic drugs for the last 13 years until a correct diagnosis of his condition was made.

  • lipid disorders
  • genetic screening/counselling
  • pathology

https://doi.org/10.1136/bcr-2021-248251

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    View Full Text

    Footnotes

    • Contributors VP conceived the study and wrote the manuscript. SP, DP and KG reviewed the literature and provided the scientific content for the study. All authors provided critical revision of the draft and approved the submitted draft.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.