@phdthesis{81dca69750e64c0783aa045cb10f3df5,
title = "Aspects of cardiovascular risk stratification and management of familial hypercholesterolaemia",
abstract = "Familial hypercholesterolaemia (FH) causes cardiovascular disease from a young age, due to extremely high plasma concentrations of LDL-cholesterol. This thesis examines (1) the use of genetic risk predictors of cardiovascular disease in patients with FH, and (2) the use of advanced therapies (liver transplantation and lipoprotein apheresis) in patients with the most severe forms of FH. Some genetic markers predicted risk, but their clinical utility remains uncertain. Advanced therapies for severe FH were generally well-tolerated and feasible, with excellent long-term outcomes. Advances in risk prediction and therapy have the potential to improve the care of FH. ",
keywords = "Familial hypercholesterolaemia, Lipoprotein(a), lipoprotein apheresis, liver transplantation, polygenic risk scores",
author = "Michael Page",
year = "2024",
doi = "10.26182/n8jf-qj46",
language = "English",
school = "The University of Western Australia",
}