Cardiovascular diseases are the major cause of death worldwide. Several risk factors have been identified and include hyperlipidemia (an abnormally high level of fats--lipids--in the blood), arterial hypertension, cigarette smoking, diabetes mellitus, physical inactivity, and decreased levels of high-density lipoproteins (HDL) in plasma. More recently, other factors such as elevated levels of triglyceride, lipoprotein (a) and fibrinogen were shown to be associated with increased risk of coronary heart disease (CAD). The assessment and treatment of dyslipidemias (abnormal levels of lipids in the blood, hyperlipidemia and hypolipidemia) has been a major target to reduce the risk of CAD in the last 20 years.

The understanding of the genetic dyslipidemias is closely related to the metabolism of the lipids and lipoproteins. Therefore, a brief overview of this intricate metabolism is given here.

Lipoproteins are particles composed of lipids (cholesterol, triglyceride and phospholipids) and apoproteins (group of proteins that spontaneously...