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.
Genetic testing should become the standard of care for patients with definite or probable familial hypercholesterolemia.
Screening for hypercholesterolemia is feasible at routine child immunization visits in primary care practices.
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