Aortic valve stenosis in familial hypercholesterolaemic: Should we systematically screen?

Juliette Lutun, Ariel Cohen, Hélene Eltchaninoff, Franck Boccara

Familial hypercholesterolaemia is an autosomal-dominant disorder characterized by abnormally high low-density lipoprotein concentrations since intra-utero life. It is caused by a mutation in the low-density lipoprotein receptor (in 80% of cases), apolipoprotein B and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. Familial hypercholesterolaemia affects about 30 million subjects worldwide. Two forms exist: the homozygous form (HoFH) is characterized by having two mutated alleles and the heterozygous form (HeFH) by having one mutated allele. HoFH has a prevalence of approximately 1 in a million, and carries a much worse prognosis than HeFH, which has a prevalence of 1 in 300. 
Detecting and treating familial hypercholesterolaemia as early as possible is essential to prevent the development of cardiovascular atherosclerotic disease, especially coronary artery disease. Therapy includes dietary modification, medication (statins, ezetimibe, PCSK9 inhibitors) and lipid apheresis. Besides coronary artery disease, aortic valve stenosis is also more prevalent among people with versus those without familial hypercholesterolaemia.