Table 3 Studies assessing lipid metabolism disorders in adult GD1 patients
From: Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review
Author (year) | Study population | Main findings |
|---|---|---|
Alfonso et al., 2003 [43] | 70 adult GD patients (54 on ERT, 16 without treatment) | Increase of HDL-c (+ 38%) and apo A-I (+ 18%) levels in ERT-treated patients. No significant effect of ERT on LDL-c and apo B levels. Decrease of plasma-apo E (− 32%) and HDL-apo E (− 26%) concentrations after ERT |
de Fost et al., 2008 [44] | 40 adult GD1 patients (34 on ERT, 2 on STR, 4 untreated) | Significantly lower levels of HDL-c and ApoA1 and higher TG levels in patients vs. controls. No differences in cIMT between patients and controls. |
Puzo et al., 2010 [45] | 26 adult GD1 patients treated with SRT for up to 36 months | Increase in plasma HDL-c and apoA-I in therapy-naive patients after SRT. Decrease in levels of TG, CRP concentrations, and TC/HDL-c ratios after 24 months of SRT. No changes in HDL-c and apoA-I, or in the TC/HDL-c ratio in patients switched from ERT to SRT |
Stein et al., 2011 [49] | 278 adult, GD1 patients, evaluated before and during ERT. | Significantly lower HDL-c in untreated GD1 subjects. A negative correlation between HDL-c chitotriosidase level, spleen and liver volume, GD severity score index. A rise of initially low HDL-c towards normal after ERT |
Zimmermann et al., 2013 [41] | 12 treatment-naive adult GD1 patients, evaluated before and after 3 years of ERT. | Pre-ERT: decreased HDL-c concentrations, increased LDL/HDL ratios (3.1 ± 0.7). During ERT: Increase of HDL-c after 6 months of ERT. Decrease of LDL/HDL ratio after 30 months of ERT. Decrease of TG after 18 months of ERT. Small dense LDL concentration increased constantly and was comparable to controls. After 3 years of ERT: reduced HDL-C concentrations, however, mean concentrations significantly improved |