(Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia

Abstract

Familial hypercholesterolemia (FH) is a group of genetic defects that lead to a marked increase in the concentration of cholesterol in the blood and an increased risk of early development of coronary heart disease. FH is one of the most common congenital metabolic disorders. Achieving a target LDL cholesterol reduction of 50% or more requires aggressive lipid-lowering therapy. If people with FH have other risk factors, it may be necessary to reduce the LDL cholesterol to an even lower target level. Despite the prevalence of this disease and the availability of effective treatments, FH often remains undiagnosed and untreated, especially in children. Insufficiently effective diagnosis and treatment of FH indicate the need for a significant improvement in the awareness and understanding of this disease, both in society and among medical workers. This document provides guidelines for the screening, diagnosis, and treatment of FH in children and adults from the National Lipid Association's expert group on familial hyperlipidemia. This communication provides specific clinical guidance for primary care physicians and lipid specialists to improve management of patients with FH and reduce their increased risk of coronary artery disease.