Work

Cardiometabolic risk in pseudohypertriglyceridemia resulting from hyperglycerolemia

Year: 2025

Type: article

Abstract: BACKGROUND AND AIMS: Hyperglycerolemia is a rare X-linked inborn error of metabolism whose prevalence is currently unknown. Whether extreme glycerol levels are associated with atherosclerosis is still unknown. The aim of this study was to assess subclinical atherosclerotic cardiovascular disease (ASCVD) in hyperglycerolemia. METHODS: We performed a retrospective analysis in a cohort of patients referred to a tertiary referral center for dyslipidemia between 2000 and 2011. We assessed plasma glycerol levels in all subjects exhibiting hypertriglyceridemia (defined as triglyceride levels > 200 mg/dL). Genetic testing was performed in patients with confirmed hyperglycerolemia. RESULTS: Over 314,268 lipid profiles, 11.8% had hypertriglyceridemia, of whom 13 patients had biological hyperglycerolemia. Genetic tests showed 7 previously undescribed variants of the X-linked glycerol kinase gene. None of the hyperglycerolemic patients presented carotid atherosclerosis at baseline. After a median 11.5 years follow-up, none of the hyperglycerolemic patients developed clinical ASCVD, although noninvasive coronary and carotid imaging revealed the incidence of subclinical atherosclerosis for three of the hyperglycerolemic patients with concomitant classical cardiovascular (CV) risk factors together with an unhealthy trajectory in body weight. CONCLUSIONS: Hyperglycerolemia per se is not associated with premature ASCVD. Its screening should be considered only in patients with persistent hypertriglyceridemia unresponsive to treatment. The confirmation of hyperglycerolemia can help the clinician reassure the patient concerning his CV risk, as no further assessment is required other than common CV risk factors monitoring, including body weight increase and insulin resistance that may appear over the life course.

Source: Journal of clinical lipidology

DOI: 10.1016/j.jacl.2025.08.007