Myocardial Ischemia in Young Women With Familial Hypercholesterolemia: Similar Presentation and Divergent Treatment Response

Familial hypercholesterolemia (FH) is a disorder often underdiagnosed in young women, delaying prevention of premature coronary disease.

We report 2 women with FH and strong family histories of cardiovascular disease who developed early ischemic events. The first patient experienced STEMI followed by NSTEMI with progressive ventricular dysfunction, requiring repeated percutaneous coronary intervention. The second patient presented with unstable angina and severe 3-vessel disease, managed successfully with coronary artery bypass grafting. Both cases highlight the consequences of delayed recognition of FH and the need for systematic risk assessment.

Timely identification through lipid evaluation, multimodal imaging, and genetic cascade screening is essential to prevent early onset of atherosclerotic cardiovascular disease in patients with FH. These cases demonstrate the advanced coronary burden that may develop in young women when FH remains unrecognized or undertreated.

Incorporating cascade genetic screening with lipid profiling and multimodal imaging may enable the early identification of subclinical atherosclerosis in young women with familial hypercholesterolemia, thereby supporting the initiation of more intensive therapy before ischemia develops.