Hypolipemias are disorders of lipid metabolism characterized by a decrease in the plasma concentration of lipoproteins, which can be caused by primary (genetic) or secondary factors. In primary disorders, one or more mutations can lead to hypoproduction or increased clearance of plasma LDL. The panel includes a group of genes associated with a marked decrease in the value of the main lipoproteins.
Heterozygous familial hypocholesterolemia due to truncations of the apoB protein (which is the most common form of hypolipidemia in general) occurs in 1:3,000 individuals in the general population. In a cohort of blood donors with plasma cholesterol below the fifth percentile (128 mg/dL), apoB truncations have been identified in 0.55% of cases.
Patients with lipoprotein values below the fifth percentile according to values established for the general population.
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The panel includes a group of genes associated with a marked decrease in the value of the main lipoproteins.
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.
