IMR Press / RCM / Volume 19 / Issue S1 / DOI: 10.3909/ricm19S1S0001
Open Access Review
Familial Hypercholesterolemia: Although Identification Advances, Appreciation and Treatment Lag
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1 Preventive Cardiology Inc., Boca Raton, FL
2 Division of Cardiology, Advocate Heart Institute at Advocate Lutheran General Hospital, Park Ridge, IL
Rev. Cardiovasc. Med. 2018 , 19(S1), 25–30;
Published: 20 January 2018
Familial hypercholesterolemia is one of the most common autosomal dominant inherited genetic disorders, yet it is frequently undiagnosed, leading to a markedly increased risk for cardiovascular events. Understanding the pathophysiology of the disease as well as the importance of cascade screening is critical to appropriate treatment of patients. Though the mainstay of therapy for heterozygous familial hypercholesterolemia remains statins, many patients require additional therapy including ezetimibe and/or proprotein convertase subtilisin/kexin type 9 (PCSK9) antibodies to achieve adequate low-density lipoprotein cholesterol (LDL-C) lowering. Access to PCSK9 inhibitors remains a significant clinical problem.
Familial hypercholesterolemia
PCSK9 antibodies
Elevated LDL cholesterol
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