Keywords
Low-density lipoprotein
Cholesterol
Cardiovascular diseases
Triglycerides
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Abstract
Objective: To describe familial hypercholesterolemia (FH), highlighting its respective guidelines and treatment protocols according to its risk category, as well as the available therapeutic arsenal. Literature review: FH is a genetic disorder related to elevated low-density lipoprotein cholesterol (LDL-C) levels and, consequently, to the outcome of premature cardiovascular disease. FH has an approximate prevalence of 1:500 in the general population and can manifest as either homozygous or heterozygous. Classic FH is marked by severe hypercholesterolemia, resulting from a pathogenic variant in one of the genes implicated in FH. Early diagnosis through clinical scores and multiple sets of criteria, including clinical, biochemical, and genetic parameters, is essential for targeted treatment and the reduction of the risk of complications. Final considerations: Given its complexity, FH assessment should be multidisciplinary and should consider risk stratifiers to guide the treatment choice, which combines diet and medications according to the patient’s profile. Although new genetic therapies are promising, the current focus is on expanding access to the therapeutic options already available.
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