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Individuals with familial hypercholesterolemia FH have a high risk of coronary artery disease, but their risk of peripheral arterial disease PAD and chronic kidney disease CKD is unknown. Heterozygous familial hypercholesterolemia FH is an autosomal dominant disorder of lipoprotein metabolism, estimated to affect one out of individuals in Western populations 1 , 2.

Mutations in genes involved in the recycling pathways of the low-density lipoprotein LDL receptor lead to decreased clearance of LDL cholesterol from plasma and consequently substantially increased total and LDL cholesterol concentrations 3 , 4.

Lifelong vascular exposure to elevated concentrations of LDL cholesterol leads to atherosclerosis, the major clinical manifestation of FH. A similar involvement of the peripheral arteries seems likely but is largely unknown for individuals with FH.

Lower extremity peripheral arterial disease PAD and chronic kidney disease CKD are two manifestations of peripheral atherosclerotic disease that significantly contribute to morbidity and mortality 6 , 7. Furthermore, both diseases constitute independent risk factors for CAD in the general population 6 , 7.

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