The role of high density lipoprotein in Type 1 Gaucher disease

Type I Gaucher Disease (GD1) is known to be associated with hypocholesterolemia and reduced levels of low density lipoprotein (LDL) and high density lipoprotein (HDL). In this study we aimed to correlate disease severity with HDL levels and to evaluate the effect of enzyme replacement therapy (ERT) on HDL levels as well as estimating the frequency of cardiovascular events in GD. Two groups of GD1 patients were evaluated: 30 untreated and 36 patients on ERT. Disease severity, biomarkers of GD and lipid levels were evaluated in the two groups. The Zimran Severity Score Index (SSI) was used to estimate disease severity and the effect of ERT on HDL levels was evaluated, as well as the frequency of cardiovascular disease. GD1 patients with more severe disease (SSI median 11) had significantly lower levels of HDL (median 23mg/dL), compared to patients with milder (SSI median 4.5) disease (median 37mg/dL p=0.001). HDL levels increased after ERT. Despite lower HDL levels in patients with more severe disease, a low frequency of cardiovascular events was detected. HDL level should be used in GD as a biomarker for diagnosis, monitoring and estimation of ERT effect.