Update on Familial Hypercholesterolemia: Diagnosis, Cardiovascular Risk, and Novel Therapeutics.
- Author:
Sang Hak LEE
1
Author Information
- Publication Type:Review
- Keywords: Hyperlipoproteinemia type II; Genetics; Coronary disease; Hydroxymethylglutaryl-CoA reductase inhibitors; PCSK9 protein, human
- MeSH: Cholesterol, LDL; Coronary Disease; Diagnosis*; Drug Therapy; Genetic Testing; Genetics; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Hyperlipoproteinemia Type II*; Prevalence; Proprotein Convertases; Risk Factors
- From:Endocrinology and Metabolism 2017;32(1):36-40
- CountryRepublic of Korea
- Language:English
- Abstract: In recent studies, the reported prevalence of heterozygous familial hypercholesterolemia (FH) has been higher than in previous reports. Although cascade genetic screening is a good option for efficient identification of affected patients, diagnosis using only clinical criteria is more common in real clinical practice. Cardiovascular risk is much higher in FH patients due to longstanding low density lipoprotein cholesterol (LDL-C) burden and is also influenced by other risk factors. Although guidelines emphasize aggressive LDL-C reduction, the majority of patients cannot reach the LDL-C goal by conventional pharmacotherapy. Novel therapeutics such as proprotein convertase subtilisin/kexin type 9 inhibitors have shown strong lipid lowering efficacy and are expected to improve treatment results in FH patients.
