NewsCURRENT OPINION IN LIPIDOLOGYSaturday, March 7, 2026 · March 7, 2026
Update on genetics of familial hypercholesterolemia.
WHY IT MATTERS
Recent peer-reviewed research on Homozygous familial hypercholesterolemia that may be relevant for patients and caregivers.
Familial hypercholesterolemia is a monogenic Mendelian disorder characterized by elevated LDL cholesterol and premature atherosclerotic cardiovascular disease. It is caused by pathogenic variants in LDLR , APOB , and PCSK9 , with rarer involvement of LDLRAP1 and APOE . Despite advances in molecular ...
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