Familial dysbetalipoproteinemia E78.2

Gofman et al. 1954

Familial dysbetalipoproteinemia (hyperlipoproteinemia type III according to Fredrickson) is a genetic disorder of fat metabolism (mutation of Apo E2 on chromosome 19). Although the mutation is common, the clinical type is relatively rarely expressed. Therefore, other, primarily exogenous factors are involved.

The apolipoprotein phenotype E2/2 (=Apo E2 homozygosity) is frequently represented with 1/100. However, clinical type III according to Fredrickson is rarely manifested;m:w=2-3:1. The multifactorial disease is found in about 1% of the infarct patients.

The cause is a massive accumulation of chylomicron remnants and Very Low Density Lipoprotein (VLDL) remnants. These occur as part of the exogenous (intestinal) and endogenous (hepatic) triglyceride metabolism after the apolipoprotein (Apo) E containing lipoproteins, for example chylomicron and VLDL, have been split by the endothelial lipoprotein lipase. Under physiological conditions, the resulting remnants, which are still triglyceride, but above all cholesterol-rich, are taken up and metabolised by the liver.

The lipid metabolism disorder is characterized by increased cholesterol and triglyceride concentrations in the serum. Cholesterol is measured at 300-800mg/dl, triglycerides at 400- >1000mg/dl.

Targeted testing of the polymorphisms APO E2 and APO E4.

Material: 2 - 5 ml EDTA blood.

Method: DNA extraction, PCR; reverse hybridization

If familial dysbetalipoproteinemia remains untreated, the risk of developing atherosclerosis, coronary heart disease and/or peripheral arterial occlusive disease increases. The manifestation of the disease is also accelerated by external factors: high-fat diet, age, obesity and diabetes.