Introduction:

Familial hypercholesterolaemia is a substantial risk factor for suffering premature coronary, peripheral arterial, and valular disease. There are two forms described, depending on their genetics and zygosity, as well as three associated genetic mutations. Although treatment with statins is considered first line, some patients do not reach targets, as such that that PCSK9 inhibitors have been used as a new strategy.

Materials and method:

A case is presented of a 42 year-old patient with heterozygous familial hypercholesterolaemia treated with PCSK9 inhibitors. The criteria and genetic studies used to make a diagnosis are described, as well as the chronology of the treatments that have been received and the laboratory results before and after starting with evolocumab. A review has also been made of the subject of familial hypercholesterolaemia and its treatment with PCSK9 inhibitors.

Conclusions:

Familial hypercholesterolaemia is a diseases that may have serious cardiovascular consequences. PCSK9 inhibitors have become a promising alternative for those who do not respond to conventional therapies. Studies are required that can corroborate or contradict the benefits and adverse effects found up until now in patients subjected to these new therapies in order to offer an ideal and appropriate treatment.

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