Hypercholesterolemia due to LDL receptor deficiency

Hypercholesterolemia due to LDL receptor deficiency is a genetic disorder characterized by high levels of cholesterol in the blood, specifically due to a deficiency in the LDL receptor. This condition is a form of familial hypercholesterolemia (FH), which is inherited in an autosomal dominant manner. The LDL receptor's primary function is to remove low-density lipoprotein (LDL), often referred to as "bad" cholesterol, from the bloodstream. When these receptors are deficient or function improperly, LDL cholesterol levels rise, leading to an increased risk of coronary artery disease and other cardiovascular diseases.

Causes

Hypercholesterolemia due to LDL receptor deficiency is caused by mutations in the LDLR gene, which encodes the LDL receptor. These mutations can lead to a complete lack of LDL receptors, a decrease in the number of receptors, or the production of dysfunctional receptors. The result is an impaired ability of the liver to clear LDL cholesterol from the blood.

Symptoms

Individuals with this condition often develop high blood cholesterol levels at a young age. Symptoms may not be apparent initially, but as cholesterol accumulates in the blood, it can lead to the development of xanthomas (cholesterol deposits in the skin), xanthelasmas (cholesterol deposits around the eyes), and corneal arcus (cholesterol deposit in the eye's cornea). The most significant risk associated with hypercholesterolemia due to LDL receptor deficiency is the early onset of cardiovascular diseases, including heart attacks and strokes.

Diagnosis

Diagnosis of hypercholesterolemia due to LDL receptor deficiency involves a combination of family history, physical examination, and blood tests to measure cholesterol levels. Genetic testing can confirm the presence of mutations in the LDLR gene.

Treatment

Treatment focuses on reducing LDL cholesterol levels and managing the risk of cardiovascular disease. This typically involves lifestyle changes such as diet, exercise, and weight management. Medications, including statins, bile acid sequestrants, and PCSK9 inhibitors, may also be prescribed to help lower cholesterol levels. In severe cases, lipoprotein apheresis, a procedure to remove LDL cholesterol from the blood, may be considered.

Prevention

Preventive measures for individuals with a family history of hypercholesterolemia due to LDL receptor deficiency include regular cholesterol screening and adopting a heart-healthy lifestyle from a young age. Early detection and treatment can significantly reduce the risk of developing cardiovascular diseases.