Hyperlipoproteinemia Type IIIs, also known as familial dysbetalipoproteinemia or remnant hyperlipidemia, is a rare genetic disorder characterized by abnormal lipid metabolism that results in the accumulation of cholesterol-rich remnants in the blood. This condition arises from a deficiency or impaired functioning of a specific enzyme called lipoprotein lipase (LPL), which is responsible for breaking down triglycerides in the bloodstream.
Individuals with Hyperlipoproteinemia Type IIIs have elevated levels of low-density lipoprotein (LDL) cholesterol and triglycerides, particularly those carrying apolipoprotein E2 (apoE2). This leads to the development of remnant lipoproteins or beta-VLDL particles, which are larger and denser than normal LDL. These remnants are prone to accumulating in the blood vessels, leading to the formation of atherosclerotic plaques.
Symptoms of Hyperlipoproteinemia Type IIIs typically include xanthomas (yellowish fatty deposits) on the skin, particularly around the knuckles, elbows, and knees. Additionally, affected individuals may develop xanthelasmas (cholesterol deposits around the eyes) and arcus lipoides (grayish rings around the corneas). Some patients may also experience symptoms related to atherosclerosis, such as chest pain, shortness of breath, or other signs of cardiovascular disease.
Management of Hyperlipoproteinemia Type IIIs involves lifestyle modifications, including dietary changes to reduce intake of saturated fats and cholesterol, regular physical exercise, and smoking cessation. Medications such as statins, fibrates, and cholesterol absorption inhibitors may be prescribed to control lipid levels and reduce the risk of cardiovascular complications. Periodic monitoring of lipid levels and cardiovascular health is essential for optimal management
