Abstract #1182253: Importance of diagnosing apolipoprotein B mutation, a rare cause of familial hypercholesterolemia on Hispanic population

Abstract

Familial hypercholesterolemia (FH) is a genetic disease characterized by markedly elevated LDL cholesterol (LDL-C) which leads to an increased risk of premature atherosclerotic cardiovascular disease (ASCVD). Among the genetic defects causing FH, mutation on apolipoprotein B (APOB) is infrequent, with scant cases reported on the Hispanic population. We present a case of a Hispanic female patient with persistent elevated LDL-C level since teenage years recently diagnosed with FH caused by APOB mutation.