Abstract
Familial hypercholesterolemia is a metabolic disease with extensive clinical implications for its carriers. It is caused by a mutation in 1 of the 3 genes necessary for the metabolism of the LDL cholesterol particle.
Suspicion of familial hypercholesterolemia should be suspected with levels LDL cholesterol > 5 mmol/L without significant triglyceride elevation. A positive family history contributes significantly to the clinical diagnosis.
Clinical signs of familial hypercholesterolemia are becoming less common. In practice, scoring systems have been used successfully to quantify clinical suspicion.
Molecular genetic testing is not necessary for treatment, yet it can be beneficial for the patient. Treatment begins with diet and lifestyle changes, followed by pharmacological treatment.
We have statins, ezetimibe, possibly in combination with other hypolipidemic drugs. Since year 2018, we can indicate treatment with PCSK-9 inhibitors in patients with familial hypercholesterolemia.
This treatment is organized in the Czech Republic in the form of center treatment.