Current challenges in the management of patients with familial hypercholesterolemia

Abstract

Familial hypercholesterolemia (FH) is a codominant monogenic disorder of lipoprotein metabolism, characterized by severely elevated levels of LDL cholesterol from birth onwards. Despite the availability of reliable diagnostic strategies, the vast majority of FH patients remain undiagnosed. Treatment of FH is mandatory to prevent premature cardiovascular disease and statins are the drug of choice. However, in some FH individuals, statins alone or in combination do not allow the attainment of therapeutic goals. LDL apheresis may be an option, mainly in homozygous FH. Nevertheless, the new lipid-lowering agents (blockers of apoB synthesis or PCSK9 inhibitors) hold promise for patients with resistant FH. There are still concerns when beginning pharmacological interventions in children with FH and also the management of FH in women of childbearing age or during pregnancy is a clinical dilemma. In the present article, these current challenges in the management of FH will be discussed.

Keywords:

• apoB inhibitor
• children
• diagnosis
• familial hypercholesterolemia
• LDL receptor
• molecular genetics
• PCSK9 inhibitor
• pregnancy
• statins