Hyperlipidemia [57 genes]

Hyperlipemias of genetic etiology are associated with a high predisposition to developing early atherosclerotic disease of familial presentation, currently considered by the WHO as a major global health problem. They have a high impact on cardiovascular risk since they act from very early periods of life and constitute a poor prognostic factor in the affected patient. The nature of hyperlipidemia is very complex at a clinical and genetic level.

Monogenic forms of hyperlipidemia are usually clearly defined. Some of them have a dominant inheritance pattern and are relatively common, while others are recessively inherited and are much rarer. This type of disorders expresses itself independently of environmental influences.

Polygenic forms of hyperlipidemia are much more common and the manifestations of the disorder are largely influenced by environmental or secondary factors. In some forms of hyperlipidemia the underlying genetic defect is usually insufficient to produce hyperlipidemia unless additional environmental or genetic influences coexist. It is estimated that more than 60% of the variability in serum lipids is genetically determined and most of this variation is due to polygenic influences.

It is estimated that approximately 9% of heart attacks in individuals under 65 years of age are due to monogenic dyslipidemias, mainly familial hypercholesterolemia. The identification of these monogenic diseases is essential, since their prognosis and, therefore, the clinical management of these patients may be substantially different from that of metabolic alterations determined by common causes (e.g., non-genetic dyslipidemias). Some of these diseases have a very variable phenotypic manifestation in certain families due to the presence of genes that modulate lipoprotein levels. Its knowledge is important to determine in a more precise and personalized way the risk associated with disease in members of the same family.

This panel is intended for patients who present elevations in several lipoproteins, who do not present isolated hypercholesterolemia or hypertriglyceridemia, and who want to evaluate genetic variants associated with a combined increase in both metabolites in their lipid profile. It is also indicated in cases with suspected hyperalphalipoproteinemia of genetic etiology.