Early diagnosis and treatment of familial hypercholesterolemia: improving patient outcomes

Abstract

Familial hypercholesterolemia (FH) is the most frequent inherited disorder associated with premature coronary artery disease. Early identification and treatment of patients will reduce cardiovascular outcomes. Identification of index cases and then cascade testing in first-degree relatives using lipid levels and genetic test is the most cost-effective strategy implemented in some countries. FH patients are considered at high cardiovascular risk. Imaging techniques such as coronary computed tomography angiography could identify subjects that will require more intensive treatments. Recent guidelines recommend an LDL-C below 100 mg/dl or at least 50% LDL-C reduction if the first goal is not attained as treatment targets in heterozygous FH. Statins are the first-line agents in almost all patients, and several options exist to obtain larger LDL-C reductions like the addition of ezetimibe and/or colesevelam. Novel agents like microsomal triglyceride transfer protein inhibitors, apolipoprotein B100 antisense or PCSK9-specific monoclonal antibodies, if approved by regulatory agencies, will reduce LDL-C levels and potentially reduce cardiovascular risk in homozygous and severe heterozygous FH patients.

Keywords::

• anti-PCSK9
• apoB100 antisense
• cardiovascular disease
• cascade testing
• familial hypercholesterolemia
• LDL receptor
• LDL therapy
• microsomal triglyceride transfer protein inhibitor

Financial & competing interests disclosure

The authors were supported by Fundación Hipercolesterolemia Familiar, grant G03/181, Hiperlipemias Genéticas Network from Instituto de Salud Carlos III (ISCIII), grant 08-2008 from Centro Nacional de Investigación Cardiovascular (CNIC) and grant FIS PI12/01289 from ISCIII. R Alonso has received advisory fees from Genzyme. P Mata has received advisory fees from Aegerion Pharmaceuticals. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.