The Importance of Arterial Stiffness Assessment in Patients with Familial Hypercholesterolemia

Cardiovascular diseases are still the leading cause of mortality due to increased atherosclerosis worldwide. In the background of accelerated atherosclerosis, the most important risk factors include hypertension, age, male gender, hereditary predisposition, diabetes, obesity, smoking and lipid metabolism disorder. Arterial stiffness is a firmly established, independent predictor of cardiovascular risk. Patients with familial hypercholesterolemia are at very high cardiovascular risk. Non-invasive measurement of arterial stiffness is suitable for screening vascular dysfunction at subclinical stage in this severe inherited disorder. Some former studies found stiffer arteries in patients with familial hypercholesterolemia compared to healthy controls, while statin treatment has a beneficial effect on it. If conventional drug therapy fails in patients with severe familial hypercholesterolemia, PCSK9 inhibitor therapy should be administered; if these agents are not available, performing selective LDL apheresis could be considered. The impact of recent therapeutic approaches on vascular stiffness is not widely studied yet, even though the degree of accelerated athero and arteriosclerosis correlates with cardiovascular risk. The authors provide an overview of the diagnosis of familial hypercholesterolemia and the findings of studies on arterial dysfunction in patients with familial hypercholesterolemia, in addition to presenting the latest therapeutic options and their effects on arterial elasticity parameters.

Automated summary

Cardiovascular diseases, mainly caused by atherosclerosis, are the leading cause of mortality worldwide. Patients with familial hypercholesterolemia are at a high cardiovascular risk, and non-invasive measurement of arterial stiffness can be used to screen for vascular dysfunction in this genetic disorder. Statin treatment has a beneficial effect on arterial stiffness in these patients. If conventional drug therapy fails, PCSK9 inhibitor therapy or selective LDL apheresis can be considered.