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Familial hypercholesterolemia treatments: Guidelines and new therapies
Frederick J Raal1, G Kees Hovingh2, Alberico L Catapano3
1Carbohydrate & Lipid Metabolism Research Unit, Division of Endocrinology & Metabolism, Department of Medicine, Faculty of Health Sciences, Johannesburg Hospital, University of the Witwatersrand, Parktown, Johannesburg, South Africa.
Insights
Familial hypercholesterolemia (FH) is a genetic disorder causing high LDL-cholesterol. Early FH diagnosis and treatment are crucial for preventing cardiovascular disease, with new therapies improving LDL-C target achievement.
Area of Science:
- Genetics and Cardiovascular Medicine
Background:
- Familial hypercholesterolemia (FH) is an inherited condition characterized by elevated low-density lipoprotein cholesterol (LDL-C) from birth.
- This genetic disorder significantly increases the risk of premature cardiovascular disease (CVD).
- Despite available treatments, FH remains underdiagnosed and undertreated globally.
Purpose of the Study:
- To highlight the importance of early identification and management of FH.
- To discuss current LDL-C target goals for different FH patient groups.
- To review available pharmacological therapies for achieving LDL-C targets.
Main Methods:
- Review of current guidelines for FH management.
- Analysis of pharmacological treatment options including statins, ezetimibe, PCSK9 inhibitors, and lomitapide.
- Consideration of apheresis for severe homozygous FH cases.
Main Results:
- Guideline-recommended LDL-C targets are achievable for most heterozygous FH patients with current therapies.
- Homozygous FH patients, especially severe forms, may require combination therapy including lomitapide and/or apheresis.
- Significant reduction in LDL-C levels is possible with available treatments.
Conclusions:
- Early diagnosis and effective treatment are essential for mitigating cardiovascular risk in FH.
- A multi-faceted therapeutic approach is necessary to achieve LDL-C goals in FH.
- Advancements in pharmacotherapy offer improved management strategies for FH patients.
Abstract:
Familial hypercholesterolemia (FH) is a genetic disorder resulting from mutations in genes encoding proteins involved in the metabolism of low density lipoproteins (LDL) and characterized by premature cardiovascular disease due to the exposure to high levels of LDL-cholesterol (LDL-C) from birth. Thus, the early identification of FH subjects, followed by appropriate treatment is essential to prevent or at least delay the onset of cardiovascular events. However, FH is largely underdiagnosed; in addition, FH patients are frequently not adequately treated, despite the availability of several pharmacological therapies to significantly reduce LDL-C levels. Current guidelines recommend LDL-C targets for FH (either heterozygotes [HeFH] or homozygotes [HoFH]) <100 mg/dL (<2.6 mmol/L) for adults or <70 mg/dL (<1.8 mmol/L) for adults with CHD or diabetes, and <135 mg/dL (<3.5 mmol/L) for children. With the pharmacological options now available, which include statins as a first approach, ezetimibe, and the recently approved monoclonal antibodies targeting PCSK9, the guideline recommended LDL-C target levels can be achieved in the majority of heterozygous FH subjects, while for the most severe forms of homozygous FH, the addition of therapies such as lomitapide either with or without apheresis may be required.
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