Hypolipidemias [12 genes]

Hypolipidemias are lipid metabolism disorders characterized by a decrease in plasma lipoprotein levels, which can be caused either by primary (genetic) or secondary factors.

Although less common than hyperlipidemias, hypolipidemias have major consequences that imply alterations in one or more of the main functions of lipoproteins. These alterations may have a wide variety of clinical effects, such as predisposition to ischemic cardiopathy (associated with low HDL-C), cardiovascular protective effects (associated with decreased LDL-C), nutritional pathologies (malabsorption, growth disorders, or vitamin deficiencies), liver diseases (fatty liver, NASH), etc. The coexistence of some variants in these genes with mutations that cause other genetic hyperlipidemias may lead to major phenotypic variability in some families, therefore affecting individual risk in carriers.

1. Familial hypobetalipoproteinemia: 1:500-1:1,000
2. Abetalipoproteinemia (Bassen-Kornzweig syndrome): < 1:1,000,000
3. Chylomicron retention disease (Anderson disease): < 1:1,000,000
4. Familial hypoalphalipoproteinemia (apo A-I deficiency): < 1:1,000,000
5. Analphalipoproteinemia (Tangier disease): < 1:1,000,000
6. Familial LCAT deficiency (fish eye disease and Norum disease): 1:1,000,000
7. Familial combined hypolipidemia: unknown

The identification of causal variants in the studied genes confirms the diagnosis of some type of hypolipidemia. Determining the type of hypolipidemia may have major implications for the management of patients and their families.

Aimed at patients with lipoprotein values below the fifth percentile according to values established for the general population.