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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 populationMain 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 monthsIncrease 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
  1. apo B apolipoprotein B; apoA1 apolipoprotein A; cIMT Carotid intima-media thickness; CRP C-reactive protein; ERT enzyme replacement therapy; GD1 Gaucher disease type 1; HDL-c high-density lipoprotein cholesterol; LDL low-density lipoprotein cholesterol; SRT substrate reduction therapy; TC total cholesterol; TG triglycerides