Low HDL cholesterol levels in type I Gaucher disease do not lead to an increased risk of cardiovascular disease

Abstract Objective A low plasma high-density lipoprotein cholesterol (HDL-c) concentration is an important risk factor for the development of atherosclerotic cardiovascular disease. HDL-c levels are abnormally low in type I Gaucher disease (GD) patients. The aim of this study was to determine whether GD is associated with premature atherosclerosis. Methods Lipid profiles, apolipoproteins, and carotid artery intima-media thickness (cIMT) were analyzed in 40 type I GD patients, 34 carriers and 41 control subjects. cIMT is a non-invasive validated biomarker for the status of atherosclerosis and present and future cardiovascular disease risk. Results Compared to control subjects, patients showed decreased HDL-c (1.1 ± 0.3 mmol/L) as well as mildly decreased low-density lipoprotein cholesterol (LDL-c) levels (2.8 ± 0.7 mmol/L), with an increased ApoB/ApoA1 ratio. In carriers, HDL-c levels were normal, but LDL-c levels were decreased (2.7 ± 0.8 mmol/L). Mean cIMT measurements were not different in the three study groups (patients: 0.63 ± 0.1 mm versus carriers: 0.64 ± 0.1 mm versus control subjects: 0.65 ± 0.1 mm). Conclusion In Gaucher disease low HDL-c levels do not lead to premature atherosclerosis as assessed by cIMT measurement. This indicates that the inverse relationship between levels of HDL-c and risk of cardiovascular disease in the general population may not be present in all conditions characterised by low HDL-c levels.