Case-finding and genetic testing for familial hypercholesterolaemia in primary care.

ABSTRACT:

Objective

Familial hypercholesterolaemia (FH) is a common inherited disorder that remains mostly undetected in the general population. Through FH case-finding and direct access to genetic testing in primary care, this intervention study described the genetic and lipid profile of patients found at increased risk of FH and the outcomes in those with positive genetic test results.

Methods

In 14 Central England general practices, a novel case-finding tool (Familial Hypercholetserolaemia Case Ascertainment Tool, FAMCAT1) was applied to the electronic health records of 86 219 patients with cholesterol readings (44.5% of total practices' population), identifying 3375 at increased risk of FH. Of these, a cohort of 336 consenting to completing Family History Questionnaire and detaile

SUBMITTER: Qureshi N 

PROVIDER: S-EPMC8639929 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature