Kevin Fernando, MBChB, MScDisclosures

February 12, 2025

This transcript has been edited for clarity.

In this podcast, I’m going to talk about the identification and management of familial hypercholesterolemia in primary care. Let’s start with a typical case we all might see in primary care.

Christine is a 43-year-old journalist who contacted me requesting a cholesterol test, as her father suffered a myocardial infarction in his early fifties and was found to have very high cholesterol levels. Christine herself has no past medical history of note and takes no regular medications. She’s a nonsmoker, her BMI is 22, and her recent blood pressure was 126/74 mm Hg.

Her A1c was normal, and her lipid profile was reported as a total cholesterol of 8.1 mmol/L, LDL cholesterol of 5.0 mmol/L, HDL cholesterol of 1.4 mmol/L, and triglycerides of 2.2 mmol/L. Her 10-year risk of cardiovascular disease using a validated risk estimation tool was low.

What do we do next for Christine? Do we simply repeat a lipid profile on a fasting sample and exclude any secondary causes of dyslipidemia? Do we reinforce that all-important lifestyle advice and recheck her lipid profile in 1 year? Do we reinforce that all-important lifestyle advice and consider starting atorvastatin 20 mg? Do we reinforce that all-important lifestyle advice and consider combination lipid lowering therapy, perhaps atorvastatin and ezetimibe? Do we refer to our local lipid clinic to exclude familial hypercholesterolemia?

To set the scene, there was a powerful comment published in The Lancet during 2021 regarding a global registry cross-sectional study exploring how familial hypercholesterolemia (FH) is detected and managed across the world. The bottom line is that FH is diagnosed late, individuals often have other cardiovascular risk factors, and individuals are significantly undertreated and tragically often suffer premature atherosclerotic cardiovascular disease.

All FH guidelines recommend high-intensity statins for people living with FH independently of the presence of cardiovascular disease. However, this global registry study suggested that only around 60% were on lipid-lowering medications, of which 80% were on statins, but at suboptimal doses. Moreover, guideline-recommended LDL cholesterol targets were not frequently achieved with a single lipid-lowering therapy.

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