Diagnosis and case finding in familial hypercholesterolemia.
Heterozygous familial hypercholesterolemia (hFH) is known to be associated with a high risk for development of coronary disease. However, several issues still remain as to whether this condition merits a special approach to diagnosis and case finding. It appears that hFH meets the World Health Organization criteria as a condition worthy of a screening program. However, none of several current strategies appears to be successful in the identification of even a majority of hFH cases. These strategies include community-wide programs to test everyone for total serum cholesterol levels, the testing of first degree family members of hFH patients or family members of patients with coronary disease at age < or = 55 years, or even the screening of patients with premature vascular events. The barriers for patients and physicians to carry out screening recommendations need to be identified and removed, including the need to sensitize primary care providers about the importance of identifying those with hFH.
Pearson
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M.I. Bassett Research Institute, Cooperstown, New York 13326.
D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000517:prevention & control; D008403:Mass Screening