Key result
A 50-year-old male with 13 years of refractory hypertriglyceridaemia was diagnosed with pseudohypertriglyceridaemia caused by a novel hemizygous frameshift variant in the glycerol kinase gene.
Why the study?
Clinicians are often unaware of pseudo-hypertriglyceridaemia caused by glycerol kinase deficiency, leading to ineffective treatment with aggressive hypolipidaemic drugs.
Case Report (n=1)
No
Highlights the importance of considering pseudo-hypertriglyceridaemia due to glycerol kinase deficiency in patients with refractory high triglycerides and no visible lipaemia to avoid unnecessary treatment.
May prompt glycerol kinase testing in refractory hypertriglyceridaemia; leaves open the variant's prevalence and spectrum.
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.
No takes yet. Share an insight, caveat, or question.
Pant et al. (2022) conducted a case report in Pseudo-hypertriglyceridaemia / Glycerol kinase deficiency (n=1). Glycerol kinase deficiency was evaluated on Identification of genetic variant causing pseudohypertriglyceridaemia. A 50-year-old male with 13 years of refractory hypertriglyceridaemia was diagnosed with pseudohypertriglyceridaemia caused by a novel hemizygous frameshift variant in the glycerol kinase gene.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: