Hyperlipoproteinemia type IIs, also known as familial hypercholesterolemia, is a genetic disorder characterized by abnormally high levels of low-density lipoprotein (LDL) cholesterol in the blood. It is caused by a mutation in the LDL receptor gene, leading to impaired LDL receptors on the cell surface of the liver and other tissues. Consequently, LDL cholesterol is not efficiently cleared from the bloodstream, resulting in its accumulation. This condition typically begins in childhood, and if left untreated, it can lead to early-onset cardiovascular diseases such as heart attacks and strokes.
Individuals with hyperlipoproteinemia type IIs often have a family history of high cholesterol levels and are usually diagnosed through a combination of clinical symptoms, family history, and laboratory tests. They may present with xanthomas, which are deposits of cholesterol under the skin, particularly around the knees, elbows, and Achilles tendons. Blood tests commonly reveal elevated LDL cholesterol levels, alongside total cholesterol and triglycerides.
Treatment for hyperlipoproteinemia type IIs aims to lower LDL cholesterol levels and reduce the risk of cardiovascular complications. It often involves a combination of lifestyle modifications, such as adopting a healthy diet low in saturated and trans fats, increasing physical activity, and quitting smoking. Medications, such as statins, bile acid sequestrants, and PCSK9 inhibitors, may be prescribed to further lower LDL cholesterol levels. In some cases, a procedure called apheresis, which filters LDL cholesterol from the blood, may be recommended for individuals with very high cholesterol levels or those who have not responded adequately to other treatments. Regular monitoring of cholesterol levels and overall cardiovascular health is essential for effective management of hyperlipoproteinemia type IIs.
