Diagnosis of familial hypercholesterolemia in general practice using clinical diagnostic criteria or genetic testing as part of cascade genetic screening.


BACKGROUND Too few familial hypercholesterolemia (FH) patients are diagnosed. The most cost-effective strategy to diagnose FH is to examine first-degree relatives of already diagnosed patients. This is referred to as cascade genetic screening. METHODS AND RESULTS One thousand eight hundred and five first-degree relatives of index patients with molecularly… (More)
DOI: 10.1159/000111637


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