How to implement clinical guidelines to optimise familial hypercholesterolaemia diagnosis and treatment

Abstract

Background and aims: Familial hypercholesterolaemia (FH) is a genetic disorder associated with significantly elevated plasma low-density lipoprotein cholesterol (LDL-C) and premature coronary heart disease (CHD). Optimal management of FH relies on early identification and treatment with statins alone or in combination with other lipid-lowering therapies. A lack of awareness of FH and its manifestations among primary care physicians and specialists has led to many individuals being misdiagnosed in the early stages of the disease, further increasing the risk of CHD and requiring much more intensive lipid-lowering strategies. Therefore, implementing clinical guidelines to optimise the diagnosis and treatment of FH is essential.

Methods: A working group of clinical experts managing FH patients in their daily practice collaborated in order to provide healthcare professionals with a practical evidence-based guide to streamline early diagnosis and treatment of FH.

Results: Following thorough evaluation of available data and clinical guidelines, the expert working group provided recommendations on how to detect patients with a suspicion of FH; criteria for clinical and genetic diagnoses of FH; how to assess atherosclerosis in primary care and identify patients at the highest risk; follow-up approaches for patients' families; the most optimal treatment combinations; and when to start lipid-lowering therapy in children with FH.

Conclusions: The expert working group placed great importance on an individualised approach in the management of FH and highlighted the unmet need for both improved education and communication with the laboratory for physicians when LDL-C levels are significantly elevated. Screening high-risk individuals, or cascade screening, is the most cost-effective way of identifying FH cases and initiating adequate statin therapy alone or in combination with other lipid-lowering therapies. In the case of severe FH, where plasma LDL-C levels remain high following maximum-tolerated statin and ezetimibe treatment, PCSK9 inhibitors should be considered.

Keywords: Cardiovascular disease; Cascade screening; Familial hypercholesterolaemia; Heterozygous familial hypercholesterolaemia; Lipid-lowering therapy.