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01-05-2013 | Original Article

Dynamic changes of lipid profile in Romanian patients with Gaucher disease type 1 under enzyme replacement therapy: a prospective study

Authors: Anca Zimmermann, Paula Grigorescu-Sido, Heidi Rossmann, Karl J. Lackner, Cristina Drugan, Camelia Al Khzouz, Simona Bucerzan, Ioana Naşcu, Tim Zimmermann, Daniel Leucuţa, Matthias M. Weber

Published in: Journal of Inherited Metabolic Disease | Issue 3/2013

Abstract

Background

Dyslipidemia in Gaucher disease includes reduced total, low-density lipoprotein (LDL)-, and high-density lipoprotein (HDL)-cholesterol (C). No prospective analysis of lipid profile changes in treatment-naïve patients under enzyme replacement therapy (ERT) is available.

Methods

We analyzed lipid profile changes during ERT in a prospective controlled manner. Twelve treatment-naïve patients, Gaucher disease type 1 (GD1), 29.5 ± 12.9 years, 4M/8F. Diagnosis was made by enzymatic measurement and mutational analysis. Total-, LDL-, and HDL-C, triglycerides (TG), and LDL subfractions were assessed before the start of ERT with imiglucerase and biannually for 3 years. Patients were matched with healthy controls before and after 3 years of ERT.

Results

At baseline, we found severely reduced HDL-C concentrations (23.6 ± 5.4 mg/dl) and enhanced LDL/HDL ratios (3.1 ± 0.7). HDL-C increased after 6 months (29.2 ± 5.7, p = 0.023), LDL/HDL ratio decreased after 30 months (2.5 ± 0.5, p = 0.039). TG, even not consistently enhanced at baseline (128 ± 31.3 mg/dl), yet higher than in controls (p < 0.001), decreased after 18 months, being comparable with controls after 3 years of ERT. Small, dense LDL (mg/dl) increased continuously without significant difference to controls. After 3 years of ERT, only reduced HDL-C concentrations persisted as a potentially atherogenic alteration; however, mean concentrations markedly improved (42.9 ± 8.3 mg/dl, p < 0.001). Lipid parameters correlated with six markers of disease severity.

Conclusions

This is the first prospective controlled study regarding lipid profile dynamics during ERT (glucocerebrosidase) in initially treatment-naïve GD1 patients. The most important changes were reduced HDL-C and enhanced LDL/HDL ratio. Their dynamics during ERT and correlations with markers of disease activity suggest that they can be considered markers of disease severity and follow-up in Gaucher patients under treatment.

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Title: Dynamic changes of lipid profile in Romanian patients with Gaucher disease type 1 under enzyme replacement therapy: a prospective study
Authors: Anca Zimmermann
Paula Grigorescu-Sido
Heidi Rossmann
Karl J. Lackner
Cristina Drugan
Camelia Al Khzouz
Simona Bucerzan
Ioana Naşcu
Tim Zimmermann
Daniel Leucuţa
Matthias M. Weber
Publication date: 01-05-2013
Publisher: Springer Netherlands
Published in: Journal of Inherited Metabolic Disease / Issue 3/2013
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-012-9529-3

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Conclusions

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