What is Tangier Disease

Tangier Disease, also known as Tangier's Disease or familial high-density lipoprotein (HDL) deficiency, is a rare genetic disorder characterized by the absence or severe reduction of HDL cholesterol in the blood. HDL cholesterol is responsible for removing excess cholesterol from the body's tissues and transporting it to the liver for disposal.

Individuals with Tangier Disease typically have orange-colored tonsils and an enlarged liver and spleen. They may also experience episodes of pain and weakness in the muscles, as well as neuropathy. The condition is caused by mutations in the ABCA1 gene, which is involved in the production of HDL cholesterol.

Tangier Disease is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. However, carriers of a single mutated gene may have reduced HDL cholesterol levels without exhibiting symptoms.

Diagnosis of Tangier Disease involves blood tests to measure HDL cholesterol levels and genetic testing to identify mutations in the ABCA1 gene. Treatment focuses on managing symptoms and reducing the risk of cardiovascular complications through lifestyle modifications, such as a heart-healthy diet and regular exercise.