In patients with familial premature myocardial infarction, applying clinical and mutation criteria for familial hypercholesterolemia only identified a minor fraction of individuals with the disorder.
Researchers examined whether lipoprotein(a) cholesterol life-years can effectively measure cumulative risk for atherosclerotic cardiovascular disease and questioned whether this metric may apply to the incidence of aortic valve calcification.
Smoking, hypertension, and diabetes contributed to more than a quarter of excess CVD risk in individuals with heterozygous familiar hypercholesterolemia.
Ultrasonography or MRI may improve diagnosis of ATX in familial hypercholesterolemia, identifying patients at risk for more severe coronary artery disease.
Despite the frequency with which it occurs, familial hypercholesterolemia often goes undiagnosed, with only 10% of affected patients aware of this genetic disorder.
Screening for hypercholesterolemia is feasible at routine child immunization visits in primary care practices.
