lipoproteinldrop

Lipoprotein lipase (LPL) deficiency, also known as lipoprotein lipase deficiency (LPL-D), is a rare genetic disorder characterized by the absence or severe reduction of lipoprotein lipase enzyme activity. LPL is a key enzyme involved in the hydrolysis of triglycerides in very-low-density lipoproteins (VLDL) and chylomicrons, facilitating their conversion into free fatty acids and glycerol. This process is crucial for the transport of dietary fats from the bloodstream to peripheral tissues for energy and storage.

Individuals with LPL-D typically present with hypertriglyceridemia, a condition characterized by elevated levels of triglycerides in the blood. This can lead to a variety of clinical manifestations, including pancreatitis, xanthomas (yellowish deposits of cholesterol and triglycerides in the skin and tendons), and an increased risk of cardiovascular disease. The diagnosis of LPL-D is usually confirmed through genetic testing, which identifies mutations in the LPL gene.

Management of LPL-D primarily focuses on controlling triglyceride levels to prevent complications. This may involve lifestyle modifications such as a low-fat diet, regular exercise, and weight management. Medications, including fibrates and nicotinic acid, may also be prescribed to lower triglyceride levels. In severe cases, lipoprotein apheresis, a procedure that removes excess lipids from the blood, may be necessary.

LPL-D is inherited in an autosomal codominant manner, meaning that both copies of the LPL gene must be mutated for the condition to be present. The prevalence of LPL-D is estimated to be around 1 in 500,000 individuals. Despite its rarity, early recognition and management of LPL-D are essential to prevent the development of serious complications.