Evaluation of recombinant lysosomal acid lipase role in atherosclerosis biomarkers of a LAL-D patient

Identifier:  TFG:8996

Handle: https://hdl.handle.net/20.500.11797/TFG8996

Authors:  Guerrero Ramírez, Ainhoa

Abstract:
The study assessed whether therapy with sebelipase α in patients with lysosomal acid lipase deficiency (LAL-D) improves the atherosclerotic profile beyond lipid normalization. Lipid and hepatic parameters, as well as inflammatory markers, were analyzed in one patient and a healthy control after Sebelipase α administration. Additionally, lipid uptake and inflammation in macrophages were studied. The therapy normalized lipids and reduced inflammation, although endothelial activation persisted. The patient’s macrophages showed lower lipid uptake and inflammatory response, suggesting a lower atherogenic risk. Larger studies are needed to confirm these findings.