International Atherosclerosis Society Consensus statement on severe familial hypercholesterolaemia

News - June 1, 2016

Familial hypercholesterolaemia (FH) is a frequent genetic disease associated with elevated and precocious risk of cardiovascular disease (CVD). Recent advances in molecular diagnosis and the publication of epidemiological and case control studies have allowed to better understand the heterogeneous phenotype and the risk of CVD in FH patients. Indeed, there is a big overlap among severe forms of FH and the classical concept of homozygous and heterozygous genetic forms is no longer precise when CVD risk is concerned. Despite the importance of the genotype, the CVD risk is actually determined by the phenotype (elevated cholesterol levels), the concomitance of other atherosclerotic risk factors, and the presence of clinical and subclinical atherosclerosis.

Fortunately there has been an enormous advance in the treatment of FH, with the onset of PCSK9 inhibitors and medications that reduce the production of LDL. These agents allow reductions in LDL-cholesterol beyond what we had so hardly achieved in the past. However, these newer treatments have an elevated cost and must be used in the highest risk CVD patients for the best cost-effectiveness.

The International Atherosclerosis Society Severe FH Panel worked with the objective of characterising the severe FH phenotype and made recommendations on how to stratify CVD risk and whom to prescribe the novel lipid-lowering treatments. These recommendations will contribute to the daily clinical practice and better management of FH patients.

The consensus document is published in the Lancet Diabetes and Endocrinology, has open access after registration on the journal’s website.

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