Early diagnosis and treatment of dyslipidemias are crucial as they disrupt the balance
of lipoproteins in the blood and pose a significant risk for cardiovascular diseases.
Primary hypocholesterolemias are a less known group of dyslipidemias, where total
cholesterol and LDL cholesterol (LDL) values fall below the 5th percentile of the
general population. Early diagnosis of primary hypocholesterolemia is especially vital
for individuals with concentrations of lipid-soluble vitamins. In our study, we
researched the genetic background of 46 children and adolescents with lower cholesterol
levels. We performed whole exome sequencing and examined 28 genes linked to
reduced cholesterol levels. We found pathogenic variants in 13 probands, some of which
have not been described in the literature yet. For cases without an identified genetic
cause, there might be secondary factors or changes in other genes or regions beyond our
study's scope.
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