Autosomal dominant hypercholesterolaemia

Author: Željko Reiner
Abstract:

Autosomal dominant hypercholesterolaemia is a rare inherited metabolic disease associated with increased plasma levels of total and low-density-lipoprotein (LDL) cholesterol and the development of premature atherosclerosis, which primarily manifests in the form of coronary heart disease. Autosomal dominant hypercholesterolaemia is caused by a mutation in the LDL receptor gene (familial hypercholesterolaemia – FH), by a defect in the apoprotein B 100 – a ligand of the LDL receptor, or by mutations in the gene called proprotein convertase subtilisin/kexin type 9 (PCSK9), which codes for an enzyme involved in degradation of the LDL receptor in the lysosomes, thus preventing its recycling. Since FH is often underdiagnosed and undertreated, many FH patients do not receive adequate and timely care. Hydroxymethylglutaryl -CoA reductase inhibitors, or statins, are the first choice for the treatment of FG. However, for the patients who can not reach the target cholesterol values, the combination of statins and either ezetimibe or colesevelam could be prescribed for reducing LDL cholesterol. In addition, LDL apheresis can be used in homozygous patients as well as heterozygous patients with extremely elevated LDL cholesterol, whereas liver transplantation may be a life-saving solution in most severe cases

Key words:
cholesterol, LDL; colesevelam; coronary disease; ezetimibe; statins; hypercholesterolemia


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