LDLRezeptorVerfügbarkeit

LDLRezeptorVer is a German term that translates to "LDL receptor deficiency." It refers to a group of genetic disorders characterized by a reduced ability of the body to remove low-density lipoprotein (LDL) cholesterol from the bloodstream. LDL cholesterol is often referred to as "bad" cholesterol because high levels can lead to the buildup of plaque in arteries, increasing the risk of heart disease.

There are several types of LDLRezeptorVer, with autosomal recessive hypercholesterolemia (ARH) and autosomal dominant hypercholesterolemia (ADH) being the most common. In ARH, mutations in the LDLRAP1 gene impair the proper functioning of the LDL receptor within cells, preventing it from binding to and internalizing LDL particles. In ADH, mutations directly affect the LDLR gene itself, leading to either a reduced number of LDL receptors on the cell surface or receptors that are unable to bind LDL effectively.

The primary consequence of LDLRezeptorVer is significantly elevated levels of LDL cholesterol in the blood from birth. This hypercholesterolemia can lead to premature development of atherosclerosis, xanthomas (fatty deposits under the skin), and an increased risk of cardiovascular events such as heart attacks and strokes at a young age. Diagnosis typically involves genetic testing and lipid profiling. Treatment aims to lower LDL cholesterol levels through lifestyle modifications and medication, including statins and other cholesterol-lowering drugs.