Cardiovascular disease and cholesterol lowering therapy in women and men with molecularly defined heterozygous familial hypercholesterolemia from Brazil.

Background: Data on the epidemiology of familial hypercholesterolemia (FH) in developing regions based on contemporary, molecularly defined FH cohorts categorized by sex are scarce.

Objective: Evaluate the differences in cardiovascular disease (CVD) outcomes and lipid-lowering therapy (LLT) between men and women with molecularly defined heterozygous FH participating in a cascade screening program.

Methods: We included 794 adult FH patients (age 47 ± 15 years, 56.

Update on Sitosterolemia and Atherosclerosis.

Purpose Of Review: The purpose of this review was to summarize important and updated information on sitosterolemia. Sitosterolemia is an inherited lipid disorder consisting of high levels of plasma plant sterols. This sterol storage condition is caused by biallelic loss-of-function genetic variants in either ABCG5 or ABCG8, leading to increased intestinal absorption and decreased hepatic excretion of plant sterols.