Heterozygous familial hypercholesterolemia: prevalence and control rates

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.

KEYWORDS:

• Heterozygous familial hypercholesterolemia
• prevalence
• targets
• control
• statins
• ezetimibe
• proprotein convertase subtilisin/kexin type 9 inhibitors

Article highlights

• Heterozygous familial hypercholesterolemia (heFH) is one of the most common inherited metabolic diseases

• The prevalence of heFH has likely been underestimated and appears to be as high as 1 in every 300 individuals

• HeFH is also very common in patients with premature cardiovascular disease, affecting as many as 1 in 15 patients in this group

• Despite the high prevalence of heFH, this disease is underdiagnosed worldwide and only a small minority of patients with heFH are aware that they suffer from heFH

• HeFH is also considerably undertreated and only a few patients with this disease achieve low-density lipoprotein cholesterol targets, even in high-income countries

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Additional information

Funding

This paper received no funding.