Familial hypercholesterolemia (FH) is a genetic disorder that is characterized clinically by extremely high levels of serum low-density lipoprotein cholesterol (LDL-C) and a family history of premature coronary heart disease (CHD) and atherosclerosis.  Early detection and treatment is essential to reduce the morbidity and mortality associated with FH.  Differences between men and women with this condition need to be understood.  New National Lipid Association (NLA) recommendations support aggressive LDL-C lowering in patients with FH.  Finally, despite recognized benefits of early detection and intervention, the challenges of under-diagnosis and under-treatment persist, including the need for newer therapies.