PT  - JOURNAL ARTICLE
AU  - Vivek Pant
AU  - Devish Pyakurel
AU  - Keyoor Gautam
AU  - Santosh Pradhan
TI  - Pseudo-hypertriglyceridaemia in glycerol kinase deficiency misdiagnosed and treated as true hypertriglyceridaemia
AID  - 10.1136/bcr-2021-248251
DP  - 2022 Mar 01
TA  - BMJ Case Reports
PG  - e248251
VI  - 15
IP  - 3
4099  - http://casereports.bmj.com/content/15/3/e248251.short
4100  - http://casereports.bmj.com/content/15/3/e248251.full
SO  - BMJ Case Reports2022 Mar 01; 15
AB  - 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.