TY - CHAP
T1 - Genetic Disorders of Lipoprotein Metabolism
T2 - Diagnosis and Management
AU - Cupido, A. J.
AU - Stoekenbroek, R. M.
AU - Kastelein, J. J. P.
PY - 2020/1/1
Y1 - 2020/1/1
N2 - Disorders of lipoprotein metabolism are major contributors to cardiovascular disease (CVD). Dyslipidemia refers to elevated LDL-C levels, triglycerides, or remnant cholesterol, and decreased HDL-C. Most cases of CVD are multifactorial and/or polygenic in origin. However, (mono)genic causes can be suspected in individuals with early-onset CVD or with specific clinical hallmarks. The first step in the diagnostic workup of dyslipidemias is to exclude secondary dyslipidemias by obtaining a medical history and through biochemical testing. Specialized biochemical tests or genetic tests can often help in establishing a definite diagnosis. Treatment consists of lifestyle modifications, usually in combination with pharmacological agents such as statins. However, advances in gene technologies have enabled a rapid increase in the repertoire of available treatment options. This chapter provides an extensive overview of lipoprotein metabolism, followed by an overview of mono- and polygenic disorders of lipoprotein metabolism, including underlying causes, clinical and diagnostic characteristics, and available treatment options.
AB - Disorders of lipoprotein metabolism are major contributors to cardiovascular disease (CVD). Dyslipidemia refers to elevated LDL-C levels, triglycerides, or remnant cholesterol, and decreased HDL-C. Most cases of CVD are multifactorial and/or polygenic in origin. However, (mono)genic causes can be suspected in individuals with early-onset CVD or with specific clinical hallmarks. The first step in the diagnostic workup of dyslipidemias is to exclude secondary dyslipidemias by obtaining a medical history and through biochemical testing. Specialized biochemical tests or genetic tests can often help in establishing a definite diagnosis. Treatment consists of lifestyle modifications, usually in combination with pharmacological agents such as statins. However, advances in gene technologies have enabled a rapid increase in the repertoire of available treatment options. This chapter provides an extensive overview of lipoprotein metabolism, followed by an overview of mono- and polygenic disorders of lipoprotein metabolism, including underlying causes, clinical and diagnostic characteristics, and available treatment options.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85150114497&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/36619715
U2 - https://doi.org/10.1007/978-3-030-45457-9_23
DO - https://doi.org/10.1007/978-3-030-45457-9_23
M3 - Chapter
C2 - 36619715
SN - 9783030454562
T3 - Clinical Cardiogenetics: Third Edition
SP - 387
EP - 411
BT - Clinical Cardiogenetics: Third Edition
PB - Springer International Publishing
ER -