Clinical Evaluation of Patients with Genetically Confirmed Familial Hypercholesterolemia.

ABSTRACT: Familial hypercholesterolemia (FH) is the most common genetic disorder associated with premature atherosclerotic cardiovascular (CV) disease (ASCVD). However, it still is severely underdiagnosed. Initiating lipid-lowering therapy (LLT) in FH patients early in life can substantially reduce their ASCVD risk. As a result, identifying FH is of the utmost importance. The increasing availability of genetic testing may be useful in this regard. We aimed to evaluate the genetic profiles, clinical characteristics, and gender differences between the first consecutive patients referred for genetic testing with FH clinical suspicion in our institution (a Spanish cohort). Clinical information was reviewed, and all participants were sequenced for the main known genes related to FH: LDLR, APOB<

SUBMITTER: Aparicio A 

PROVIDER: S-EPMC9917940 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature