Classification of hyperlipoproteinemias based on the criteria established by the World Health Organization_
| Electrophoresis | Lipoproteins | Lipids | Diagnosis |
|---|---|---|---|
| chylomicron band at the origin | fasting chylomicronemia | triglycerides; cholesterol | familial hyperchylomicronemia (type I) |
| β band increased | LDL increased | cholesterol | isolated or severe hypercholesterolemia (type IIA) |
| pre β band; β increased | VLDL; LDL increased | cholesterol; triglycerides | combined hyperlipidemia (type IIB) |
| β floating band | β-VLDL (residual chylomicrons; IDL) | triglycerides; cholesterol | hyperlipidemia mixed (type III) |
| pre β band increased | VLDL | triglycerides | isolated or severe hypertriglyceridemia (type IV) |
| band of chylomicrons; pre β increased | chylomicrons; VLDL | triglycerides; cholesterol | hypertriglycerdemia (type V) |
Genes involved in the development of dyslipidemias_
| Gene | Locus | Phenotype |
|---|---|---|
| PCSK9 | 1p32 | related to autosomal dominant HAD and elevation of blood cholesterol levels |
| APOB | 2p24-23 | increase in blood cholesterol |
| LDLRAP1/ARH | 1p36-35 | related to autosomal recessive HAR and accumulation of LDL receptor in cell membranes |
| APOE | 19q13.32 | associated with hyperlipoproteinemia type 3, Alzheimer’s disease, lipoproteic glomerulopathy and familial hypercholesterolemia |
| LDLr | 19p13.1-13.3 | associated with familial hypercholesterolemia |
| ABCG5 and ABCG8 | 2p21 | both genes are related to the appearance of sitosterolemia |