EP135: Discussing High Cholesterols in Families - Familial Hypercholesterolaemia

Welcome to my podcast. I am Doctor Warrick Bishop, and I want to help you to live as well as possible for as long as possible. I’m a practising cardiologist, best-selling author, keynote speaker, and the creator of The Healthy Heart Network. I have over 20 years as a specialist cardiologist and a private practice of over 10,000 patients. Podcast Summary Introduction Dr. Warrick Bishop, a practicing cardiologist and author dedicated to patient education about heart health, hosts this episode with Dr. Karam Kostner, a lipidologist and cardiologist specializing in familial hypercholesterolemia (FH). The episode explores familial hypercholesterolemia—an inherited condition causing dangerously high cholesterol levels from birth—and discusses why early diagnosis and treatment are critical for preventing premature heart disease. Key Takeaways: Familial hypercholesterolemia is an autosomal dominant inherited condition affecting approximately 1 in 200-300 Australians, with higher prevalence in certain populations including Lebanese, Middle European, Mormon, and Ashkenazi Jewish communities. FH is not a matter of "if" but "when" patients develop coronary disease; however, it is entirely treatable through early intervention starting in childhood, potentially preventing heart attacks and delaying disease progression. Diagnosis relies on clinical calculators (such as the Dutch Lipid Score or Simon-Broom criteria) that assess LDL cholesterol levels, family history, clinical signs, and cardiovascular disease history, with genetic testing confirming defects in LDL receptors, ApoB, or PCSK9 genes. Treatment typically begins with statins at age 10, progressing to combination therapy with ezetimibe in young adults, and PCSK9 inhibitors for those with inadequate response; severe cases may require apheresis (a dialysis-like procedure) or liver transplant. Cardiac CT imaging is valuable for visualizing arterial plaque buildup and improving patient engagement with treatment, using radiation doses comparable to mammograms and helping clinicians determine appropriate therapy intensity. Family screening is essential because detecting one FH patient enables identification of siblings, children, and other relatives; Australia and New Zealand have established an FH registry to facilitate family follow-up. Distinguishing FH from general high cholesterol requires careful assessment of LDL levels, family history of early cardiovascular disease, and clinical features like Achilles tendon thickening or corneal rings. Additional risk factors such as smoking, high blood pressure, diabetes, and obesity significantly accelerate coronary disease development in FH patients, making aggressive management of these conditions crucial. Recent Medicare rebate approval for genetic testing by specialists will improve accessibility and support family screening initiatives across Australia.