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.