Alpha High Density Lipoprotein (HDL) Deficiency Disease, also known as Tangier Disease, is a rare genetic disorder characterized by low levels of alpha HDL cholesterol within the bloodstream. HDL cholesterol is a vital component of high-density lipoprotein, a type of lipoprotein responsible for transporting cholesterol from various tissues to the liver for metabolism and excretion.
Individuals affected by this disorder have a mutated or dysfunctional ATP-binding cassette transporter A1 (ABCA1) protein, which is responsible for the production and release of alpha HDL cholesterol into the bloodstream. As a result, the ability of the body to effectively remove excess cholesterol and lipids from cells and tissues is impaired, leading to the accumulation of excessive cholesterol within various organs and tissues.
Symptoms of Alpha HDL Deficiency Disease vary depending on the age of onset and the extent of cholesterol accumulation. Common manifestations include an enlarged liver and spleen, yellow-orange tonsils, peripheral neuropathy, and premature atherosclerosis. Additionally, affected individuals may display abnormalities in lipid profiles, such as low plasma levels of high-density lipoprotein cholesterol and apolipoprotein A1.
Management of Alpha HDL Deficiency Disease primarily focuses on symptomatic relief and prevention of complications. This may include dietary modifications, medications to control lipid levels, and treatment of specific symptoms as they arise. Genetic counseling is also recommended for affected individuals and their families due to the hereditary nature of the disorder.
In summary, Alpha High Density Lipoprotein Deficiency Disease is a rare genetic disorder characterized by low levels of alpha HDL cholesterol due to a dysfunctional ABCA1 protein. It leads to the accumulation of cholesterol in various tissues and can result in symptoms such as organ enlargement, nerve damage, and premature atherosclerosis.
