• Piotr Dobrowolski, Marek Kabat, Cezary Kępka, Andrzej Januszewicz, and Aleksander Prejbisz.
• Department of Hypertension, National Institute of Cardiology, Warsaw, Poland; Outpatient Clinic for Lipid Disorders, National Institute of Cardiology, Warsaw, Poland. p.dobrowolski@ikard.pl
• Pol. Arch. Med. Wewn. 2022 Apr 28; 132 (4).

AbstractFamilial hypercholesterolemia (FH) is a monogenic, autosomal dominant disorder that results in a rise of low‑density lipoprotein cholesterol (LDL‑C) and markedly increased risk of premature atherosclerotic cardiovascular disease. FH is relatively common, treatable, and its clinical course can be improved through early detection and timely initiation of lipid‑lowering medications. The clinical picture of FH is highly variable, with a heterogeneous phenotype even within a single family, ranging from patients with very early onset of major cardiovascular events to those who do not develop overt cardiovascular disease even at an old age. We summarized studies indicating that atherosclerotic involvement in the coronary arteries and lower extremities is higher in FH patients than in the general population. There is a paucity of data regarding the relationship between FH and the incidence of atherosclerosis in other vascular beds. There are no studies systematically evaluating several vascular beds in asymptomatic patients with FH. Providing a systematic characteristic of patients with FH with respect to the presence and extent of atherosclerotic lesions in different vascular beds may have implications for daily practice not only for patients with FH but also for a larger number of patients with very high plasma LDL‑C concentrations.

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