title: Hypertriglyceridaemia unresponsive to multiple treatments.
abstract: A 52-year-old man with a longstanding history of hypertriglyceridaemia (approximately 7 mmol/L (600 mg/dL)), unresponsive to treatment, presented to a lipid-specialty clinic. Additional triglyceride-lowering therapies were added with no effect. It was then noted that despite the apparent hypertriglyceridaemia, his serum sample was clear. A 'glycerol blank' was then requested from an advanced lipid laboratory, which reported a triglyceride value of 0.7 mmol/L (62 mg/dL). These findings suggest isolated asymptomatic glycerol kinase deficiency (GKD) or 'pseudohypertriglyceridaemia'. The falsely elevated triglyceride values in such individuals are a result of excess serum glycerol and clinical laboratories measuring glycerol to report triglyceride concentrations. After discontinuation or modification of the patient's primary triglyceride-lowering agents, the lipid panels and triglyceride values remained comparable to previous readings. Recognition of asymptomatic GKD is important to prevent unnecessary treatment and overestimated cardiovascular risk.
authors.affiliation: Department of Pharmacy Practice, University of Kansas School of Pharmacy, Kansas City, Kansas, USA.
authors.forename: James M
authors.initials: JM
authors.lastname: Backes
authors.affiliation: Foundation for Health Improvement and Technology, Richmond, Virginia, USA.
authors.forename: Thomas D
authors.initials: TD
authors.lastname: Dayspring
authors.affiliation: Health Diagnostics Laboratory Inc, Richmond, Virginia, USA.
authors.forename: Daniel M
authors.initials: DM
authors.lastname: Hoefner
authors.affiliation: Division of Clinical Pharmacology, Department of Medicine, Kansas University Medical Center, Kansas City, Kansas, USA.
authors.forename: Patrick M
authors.initials: PM
authors.lastname: Moriarty
mesh_terms: D002239:Carbohydrate Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis* / Q000201:enzymology; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D005500:Follow-Up Studies; D005990:Glycerol / Q000097:blood; D005991:Glycerol Kinase / Q000097:blood / Q000172:deficiency*; D006801:Humans; D015228:Hypertriglyceridemia / Q000097:blood* / Q000175:diagnosis / Q000188:drug therapy*; D000075262:Hypoadrenocorticism, Familial; D008297:Male; D008875:Middle Aged; D016896:Treatment Outcome; D014280:Triglycerides / Q000097:blood*
chemical_list: D014280:Triglycerides; D005991:Glycerol Kinase; D005990:Glycerol