![]() FH patients should be counseled on lifestyle changes, including reduced intake of saturated and trans-fats and cholesterol, using soluble fiber, plant stanol or sterol esters, limitation of alcohol consumption, smoking cessation and regular physical activity, blood pressure and glucose control. Patients with FH and their family members should be managed by a multidisciplinary team. FH patients, in particular those individuals with concomitant elevation of lipoprotein(a), an atherogenic LDL-like particle, and severe FH phenotype, should be assessed for the narrowing of the aortic valve. Numerous imaging studies have confirmed an increased atherosclerotic burden in FH which is significantly reduced after initiation of therapies targeting LDL cholesterol. LDL cholesterol levels are typically elevated to greater than 90 th percentile for age and sex other cholesterol fractions (high-density lipoprotein cholesterol and triglycerides) are usually only modestly altered. Personal and family occurrence of early vascular events such as coronary disease, stroke, lower extremity atherosclerosis, depositions of cholesterol under the skin, mainly within tissues attaching muscles to bones (xanthomas), and in the eyes (corneal arcus) along with increased LDL cholesterol levels should prompt further evaluation. Several criteria are used to make a clinical diagnosis of FH. The reason for the relatively high prevalence of genetic variants causing FH is not clear, although it is speculated that the variants may have been advantageous from an evolutionary standpoint in past human history. A more severe form of FH due to “double gene dosage” (homozygous, compound or double heterozygous) is a relatively rare entity, whereas a fraction of heterozygotes in the general population is one in ~300. In most countries less than 20% of FH cases are diagnosed with less than 1% of patients with FH being aware of their condition, often not until after their first heart attack. ![]() ![]() Failed synthesis, surface presentation, lowering of the number of receptors expressed on the surface of hepatocyte, defective binding of the atherogenic lipoproteins, – all and each increases circulating LDL cholesterol levels. Synthesis, processing, maturation and expression of LDL receptor on the hepatocyte surface maintain intracellular cholesterol homeostasis. Basis of familial hypercholesterolemia: impaired clearance of LDL cholesterol due to pathogenic variants in LDLR, APOB and PCSK9.
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