Arq. Bras. Cardiol. 2021; 116(4): 713-714
The Unknown Risk of Familial Hypercholesterolemia in the Development of Atherosclerotic Cardiovascular Disease
Elizabeth do Nascimento
, José Luiz de Brito Alves
This Short Editorial is referred by the Research article "Cardiovascular Risk Misperception and Low Awareness of Familial Hypercholesterolemia in Individuals with Severe Hypercholesterolemia".
Cardiovascular diseases (CVD) are recognized as the main causes of death in adulthood in the world., A number of factors, such as smoking, arterial hypertension, obesity, metabolic syndrome and hypercholesterolemia have been described as important risk factors in the development of CVD and premature death. Hypercholesterolemia can be classified as primary or secondary in origin. Primary hypercholesterolemia is due to genetically determined defects in lipid or lipoprotein metabolism; secondary hypercholesterolemia can be caused by inadequate lifestyle, diseases or medications.
Familial hypercholesterolemia (FH) is an autosomal-dominant disorder characterized by mutations in genes in the encoding of proteins involved in low-density lipoprotein (LDL) metabolism that occur in the presence of high plasma cholesterol and LDL levels associated with clinical signs of tendon xanthoma. FH is responsible for approximately 10% of cardiovascular events in people under 50 years of age.– In FH, mutations may be present in the LDL receptor gene, in the gene-encoding Apoprotein B-100 or in autosomal recessive LDLRAP1 gene and in autosomal dominant familial hypercholesterolemia (HCHOLA3) variant of the PCSK9 gene. These mutations lead to an impairment in the apoprotein-receptor interaction and result in high plasma cholesterol, high LDL levels and risk of development of atherosclerotic disease.,
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