Heterozygous familial hypercholesterolemia: prevalence and control rates. Issue 4 (4th July 2021)

• Record Type: Journal Article
• Authors: Polychronopoulos, Georgios; Tzavelas, Marios; Tziomalos, Konstantinos
• Is Part Of: Expert review of endocrinology & metabolism. Volume 16:Issue 4(2021)
• Page Start: 175
• Page End: 179
• Publication Date: 2021-07-04
• Subjects: Heterozygous familial hypercholesterolemia -- prevalence -- targets -- control -- statins -- ezetimibe -- proprotein convertase subtilisin/kexin type 9 inhibitors; Endocrinology -- Periodicals; Metabolism -- Periodicals; 616.4
• DOI: 10.1080/17446651.2021.1929175
• Languages: English
• ISSNs: 1744-6651

Abstract

ABSTRACT: Introduction : Heterozygous familial hypercholesterolemia (heFH) is associated with a very high risk for cardiovascular events. Treatment with potent statins substantially reduces cardiovascular morbidity in these patients. Moreover, combination therapy with statins plus ezetimibe and/or proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors facilitates achievement of low-density lipoprotein cholesterol (LDL-C) targets in patients with heFH. However, heFH remains underdiagnosed and undertreated worldwide. Areas covered : In this review, we summarize current evidence on the prevalence and control rates of heFH. Accumulating data suggest that heFH is one of the most common hereditary metabolic disorders, affecting approximately 1 in every 300 individuals. However, only a small minority of patients with heFH achieve LDL-C targets, even in high-income countries and in subjects followed-up in specialized lipid clinics. Expert opinion : Given the underdiagnosis of heFH using cascade and opportunistic screening, wider, population-based screening strategies should be evaluated for their feasibility and cost-effectiveness if we aspire to timely diagnosis and therefore prevention of cardiovascular morbidity and mortality in this very high risk population. Overcoming inertia in uptitrating statin dose, adding ezetimibe and/or PCSK9 inhibitors along with more generous reimbursement for lipid-lowering agents in patients with heFH are essential for improving goal attainment rates.