“Taking a look under the hood”-imaging the phenotypic heterogeneity of familial hypercholesterolemia

- The course of coronary artery disease among patients with familial hypercholesterolemia (FH) is variable despite high low-density lipoprotein cholesterol.
- This is the most detailed study of subclinical coronary artery disease by computed tomography angiography in an FH population.
- Atherosclerosis was highly prevalent in this population of asymptomatic FH patients.
- Coronary plaque associated with estimated risk and downstream management.
- Only 1 patient had at least one stenosis of 50% or greater on computed tomography angiography with zero calcium.