Familial hypercholesterolemia is a serious genetic disease whose diagnosis lags behind. The disease prevents cholesterol from entering the liver cells, thus causing its accumulation in the blood and on the walls of the arteries.
Two forms of the disease exist – homozygous or heterozygous – depending on whether both versions of the gene are affected or not. The first is very serious, which can lead to sudden early death in childhood if it is not treated. The latter, if diagnosed young, is treatable.