Familial Hypercholesterolemia (FH) is a common genetic disease characterized by high levels of circulating cholesterol and cholesterol deposits. If untreated, may significantly increase the risk of premature atherosclerosis and cardiovascular diseases (CVD). Untreated FH has severe consequences: i.e. 1/2 of men develop heart disease before they are 55 and 1/3 of women by the time they are 60. 10 Million people are affected worldwide (WHO) and only 25% are receiving effective treatment.
The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC), involving lead investigators from all round the world, has published an article in Atherosclerosis outlining the present situation relating to Familial Hypercholesterolaemia (FH) in different regions around the world. The article, Familial hypercholesterolaemia: A global call to arms, was co-authored by Dr. Isabel M Gaspar, member of the HeartGenetics advisory board, and can be accessed throught this website. FHSC is focused on raising awareness about the diagnosis and management of FH to ultimately reduce the global burden of the disease, which is, at present, widely underdiagnosed and undertreated.
FH is caused by genetic mutations in one of three genes – LDLR, APOB and PCSK9 – resulting in impaired LDL metabolism. Heterozygous mutations in any one of these genes can result in a 2-3 fold increase in plasma LDL and a increased risk of CVD compared to unaffected individuals.
HeartGenetics genetic testing for FH – LipoGene – studies these three genes, supporting early diagnosis and management of the FH hence preventing early onset of CVD.
LipoGene also comprises the study of ApoE gene since Apolipoprotein E (APOE) has emerged as one of the most important known genetic determinants in the regulation of lipid metabolism. As so ApoE genotyping can be beneficial in CVD risk prediction.
This article was published on October 16, 2015.