Tangier Hereditary Neuropathy, also known as Tangier disease or Tangier lipidosis, is a rare metabolic disorder that affects the nervous system. It is an autosomal recessive condition, meaning that an individual must inherit two copies of the mutated gene - one from each parent - to develop the disease.
This disorder is characterized by a deficiency or malfunction of the high-density lipoproteins (HDL) in the body, leading to the accumulation of cholesterol and other fats in various tissues. As a result, affected individuals may experience symptoms primarily affecting the peripheral nervous system, such as peripheral neuropathy, tingling or pain in the extremities, muscle weakness, and decreased sensation.
The name "Tangier" comes from the fact that this disorder was first discovered in individuals from Tangier Island, located in the Chesapeake Bay region of the United States. However, it has since been identified in various populations worldwide.
In addition to peripheral neuropathy, Tangier Hereditary Neuropathy can also manifest with other symptoms including hepatosplenomegaly (enlargement of the liver and spleen), orange-colored tonsils, coronary artery disease, and various lipid abnormalities.
The diagnosis of Tangier Hereditary Neuropathy is confirmed through genetic testing, which can identify mutations in the ABCA1 gene responsible for the disorder.
Currently, there is no specific cure for Tangier Hereditary Neuropathy, and treatment mainly focuses on managing the associated symptoms and preventing complications. This may involve physical therapy, pain management, and close monitoring of lipid levels and cardiovascular health.
Overall, Tangier Hereditary Neuropathy is a rare genetic disorder characterized by a deficiency in high-density lipoproteins, resulting in the accumulation of lipids and primarily affecting the peripheral nervous system.
