Hyperlipoproteinemia Type II, commonly known as familial hypercholesterolemia, is a hereditary disorder characterized by an abnormally high level of lipoproteins containing cholesterol in the blood. It is caused by mutations in genes responsible for the clearance of low-density lipoprotein (LDL) cholesterol from the bloodstream.
Individuals with Hyperlipoproteinemia Type II have an impaired ability to remove LDL cholesterol, commonly referred to as "bad cholesterol," from the blood, leading to the accumulation of cholesterol in the arteries. This buildup of cholesterol increases the risk of developing atherosclerosis, a condition where plaque forms on the artery walls, potentially leading to cardiovascular diseases such as coronary artery disease and stroke.
The prevalence of Hyperlipoproteinemia Type II varies across populations and is commonly diagnosed during childhood or adolescence. Symptoms of this condition primarily include raised blood cholesterol levels, xanthomas (fatty deposits under the skin), and family history of premature heart disease.
Treatment for Hyperlipoproteinemia Type II aims to control cholesterol levels, minimize the development of atherosclerosis, and reduce the risk of cardiovascular events. Lifestyle modifications, such as a heart-healthy diet, regular exercise, maintaining a healthy weight, and avoiding tobacco and excessive alcohol consumption, play a significant role in managing the condition. Additionally, cholesterol-lowering medications like statins may be prescribed to reduce LDL cholesterol levels further, improving long-term outcomes.
Overall, Hyperlipoproteinemia Type II is a genetic disorder characterized by abnormally high levels of LDL cholesterol in the blood, predisposing affected individuals to an increased risk of cardiovascular diseases.
