The familial defective apolipoprotein B-100 is the most widespread monogenic disorder of lipoproteins in Central Europe and is caused by mutations in the APOB gene encoding the ApoB-100 molecule. ApoB-100 is a part of the LDL particle and mediates the uptake of cholesterol-rich LDL particles from the cells. Cholesterol is elevated in the blood of patients with familial defective apolipoprotein B-100, causing atherosclerotic changes and consequently heart attacks and strokes.
The most common mutation in the APOB gene leading to the familial defective apolipoprotein B-100 is the mutation leading to the replacement of the amino acid arginine (R) with the amino acid glutamine (Q) at position 3500 of the polypeptide chain (APOB R3500Q).
Carriers of the APOB R3500Q mutation are at increased risk for developing hypercholesterolemia. The risk for stroke is similar to the risk for patients with familial hypercholesterolemia (LDL receptor mutations).
Indications for the molecular testing of the apolipoprotein B-100 mutation are hyperlipidemia (hypercholesterolemia) and first-degree relation in patients carrying the APOB R3500Q mutation.
Laboratory test results are the most important parameter for the diagnosis and monitoring of all pathological conditions. 70%-80% of diagnostic decisions are based on laboratory tests. The correct interpretation of laboratory results allows a doctor to distinguish "healthy" from "diseased".
Laboratory test results should not be interpreted from the numerical result of a single analysis. Test results should be interpreted in relation to each individual case and family history, clinical findings, and the results of other laboratory tests and information. Your personal physician should explain the importance of your test results.
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