[Effect of enzyme replacement therapy on lipid profile in patients with Gaucher's disease].
OBJECTIVE
Gaucher's disease (GD) is a lysosomal storage disorder, caused by a deficiency of the acid -glucocerebrosidase enzyme, which results in accumulation of lipids within macrophages. GD patients show decreased plasma total cholesterol (TC), low-density lipoprotein cholesterol (LDL-c) and high-density lipoprotein cholesterol (HDL-c) levels, as well as decreased apolipoprotein (apo) A-I and B. Conversely, concentrations of plasma apo E and the chitotriosidase (ChT) activity, a chitinase synthesized by activated macrophages, are increased. Enzyme replacement therapy (ERT) is effective and safe in reversing the clinical manifestations in symptomatic patients. The aim of this study was to evaluate the effect of ERT on the lipid profile of GD patients.


METHODS
70 patients, from the Spanish Registry of Gaucher's disease (REEG), were divided into two groups: 54 under ERT, according to stablished criteria, and 16 without ERT. Plasma apolipoprotein, lipoprotein and lipid concentrations, and chitotriosidase activity were analyzed in both groups. Statistical analysis was carried out with the U-Mann Whitney non-parametric test for comparison of data.


RESULTS
The group of GD patients under ERT showed significant increases of HDL-c (+38%) and apo A-I (+18%) levels, whereas no changes were observed in LDL-c and apo B levels. Conversely, chitotriosidase activity (-58%), plasma-apo E (-32%) and HDL-apo E (-26%) levels were dramatically reduced after ERT. No significant modifications were observed in the group without ERT.


CONCLUSIONS
ERT in GD patients displays significant effects on the concentration of plasma lipoproteins, resulting in a less atherogenic lipid profile and in a reduction of activated macrophages.
Departamento de Bioquímica, Biología Molecular y Celular. Facultad de Ciencias. Universidad de Zaragoza. Zaragoza, España.
Pilar
P
Alfonso
Ana
A
Cenarro
Juan Ignacio
JI
Pérez-Calvo
José
J
Puzo
Manuel
M
Giralt
Pilar
P
Giraldo
Miguel
M
Pocoví
D000293:Adolescent; D000328:Adult; D016632:Apolipoprotein A-I / Q000097:blood; D001055:Apolipoproteins B / Q000097:blood; D002648:Child; D002675:Child, Preschool; D008076:Cholesterol, HDL / Q000097:blood; D005260:Female; D005776:Gaucher Disease / Q000097:blood / Q000188:drug therapy*; D005838:Genotype; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006596:Hexosaminidases / Q000097:blood; D006801:Humans; D007223:Infant; D008055:Lipids / Q000097:blood*; D008297:Male; D008875:Middle Aged; D011446:Prospective Studies; D016896:Treatment Outcome
D016632:Apolipoprotein A-I; D001055:Apolipoproteins B; D008076:Cholesterol, HDL; D008055:Lipids; D006596:Hexosaminidases; C086400:chitotriosidase; D005962:Glucosylceramidase