Emerging Treatments for Heterozygous and Homozygous Familial Hypercholesterolemia.
Familial hypercholesterolemia (FH) is an autosomal co-dominant disorder marked by extremely high low-density lipoprotein (LDL) cholesterol levels and concomitant premature vascular disease. FH is caused by mutations that most commonly affect three genes integrally involved in the LDL receptor's ability to clear LDL particles from the circulation. Primary intervention efforts to lower LDL cholesterol have centered on therapies that upregulate the LDL receptor. Unfortunately, most patients are insufficiently responsive to traditional LDL-lowering medications. This article focuses primarily on the clinical management of homozygous FH.
Preventive Cardiology, Inc., Boca Raton, FL.
Seth J
SJ
Baum
University of Pennsylvania Health System, Philadelphia, PA.
Daniel
D
Soffer
Oregon Health and Science University, Portland, OR.
P
P
Barton Duell
D000328:Adult; D000911:Antibodies, Monoclonal / Q000627:therapeutic use; D000924:Anticholesteremic Agents / Q000627:therapeutic use; D001562:Benzimidazoles / Q000627:therapeutic use; D001781:Blood Component Removal; D005260:Female; D015316:Genetic Therapy; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D008297:Male; D009841:Oligonucleotides / Q000627:therapeutic use
D000911:Antibodies, Monoclonal; D000924:Anticholesteremic Agents; C473731:BMS201038; D001562:Benzimidazoles; D009841:Oligonucleotides; C524142:mipomersen