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@thelancetendo.bsky.socialOct 11, 2026, 9:25 AM

#Familial #hypercholesterolaemia is an autosomal, semi-dominant condition characterised by markedly elevated plasma #LDL #cholesterol concentration from birth, xanthomas, & early onset of #atherosclerotic #cardiovascular disease (#ASCVD) thelancet.com/journals/lan...
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#EndoSky #CardioSky

Previous manifestations of ASCVD, especially myocardial infarction and an elevated coronary plaque burden on cardiac CT, indicate a higher risk for ASCVD events. The risk depends not only on very high LDL cholesterol concentrations or exposure to elevated LDL cholesterol during lifetime, but also on the presence or risk biomarkers like male sex, high lipoprotein(a), low HDL cholesterol, high BMI and blood pressure, family history of early ASCVD, smoking and comorbidities like diabetes and chronic kidney disease. Specific familial hypercholesterolaemia risk equations, such as SAFEHEART-RE and the familial hypercholesterolaemia risk score, can integrate this risk. ASCVD risk might also be modulated by the effect of genes unrelated to lipids, as aggregated in a polygenic risk score. LDL cholesterol should always be reduced in patients with familial hypercholesterolaemia. Severe familial hypercholesterolaemia is a clear indication for more intensive LDL cholesterol lowering with PCSK9 inhibitors. ASCVD=atherosclerotic cardiovascular disease.
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