Atherosclerotic cardiovascular disease burden in patients with familial hypercholesterolemia: interpretation of data on involvement of different vascular beds

Genetic testing for inherited cardiovascular diseases. A position statement of the Polish Cardiac Society endorsed by Polish Society of Human Genetics and Cardiovascular Patient Communities

“…However, in the population with CAD, the frequency is much higher (1:31), especially in patients with premature CAD (1:15) and in the population with severe hypercholesterolemia (1:14). An untreated male subject with FH has a 50% risk of fatal or non-fatal myocardial infarction by the age of 50, and an untreated female subject a 30% risk by the age of 60 [76][77][78][79]. Genetic causes of FH are single-gene loss-of-function variants in the LDLR or APOB genes or gain-of-function mutations in the PCSK9 gene.…”

“…Premature ASCVD with dyslipidemia can also be a result of other inherited lipid disorders such as sitosterolemia (ABCG5, ABCG8). The presence of APOE ε4 risk allele for CAD and Alzheimer's disease, polygenic inheritance, like in familial combined dyslipidemia, or elevated lipoprotein(a) levels contribute to premature ASCVD [76][77][78].…”

A Non-Coronary, Peripheral Arterial Atherosclerotic Disease (Carotid, Renal, Lower Limb) in Elderly Patients—A Review: Part I—Epidemiology, Risk Factors, and Atherosclerosis-Related Diversities in Elderly Patients

“…The increased LDL-C levels since childhood are associated with a premature manifestation of atherosclerotic disease. The risk of developing CAD in FH patients is approximately 13-fold higher than in the general population [ 96 ]. CAD is evident in patients with FH from the age of 17 in men and the age of 25 in women, and up to 25% of the adolescents with FH present coronary artery calcification and/or aortic valve calcifications [ 97 ].…”