Abstract #1604700: A Heterozygous LDLR Mutation in 2 Young Siblings Presenting to a Tertiary Children’s Hospital in United Arab Emirates

Heterozygous familial hypercholesterolemia (FH) is an uncommon, autosomal dominant–inherited condition which causes premature atherosclerotic cardiovascular disease (ASCVD). Delayed recognition of FH leads to progressive accumulation of atherosclerotic plaque and may present in young adulthood. Ten percent of patients with FH will experience a myocardial infarction before 30 years of age if the disease is left untreated. Early recognition is vital to allow timely treatment; however, it remains underdiagnosed and undertreated. It cannot be adequately controlled with dietary modifications or exercise although these are an important part of management. First-line therapy with a low-dose statin is recommended from 8-10 years’ of age. Combination therapy is usually required to achieve adequate lipid lowering, e.g., with addition of ezetemibe and PCSK9 inhibitors.