Tangier Disease (TD), also known as Tangier Island disease or familial high-density lipoprotein deficiency, is a rare genetic disorder characterized by the abnormal metabolism of cholesterol and other lipids within the body. It belongs to a group of disorders called neuropathies, which primarily affect the peripheral nervous system.
Individuals with Tangier Disease typically have extremely low levels of high-density lipoprotein (HDL) cholesterol, which is responsible for removing excess cholesterol from cells and transporting it to the liver for disposal. This leads to the accumulation of cholesterol and other lipids in various tissues, including the nerves, resulting in progressive damage.
Neuropathies associated with Tangier Disease are characterized by a range of symptoms, including sensory abnormalities such as numbness, tingling, and pain in the limbs. Motor deficits may develop, leading to muscle weakness, difficulty in coordination, and impaired reflexes. In some cases, individuals may also experience autonomic dysfunction, which can manifest as gastrointestinal disturbances, problems with bladder control, and abnormalities in blood pressure regulation.
The onset and progression of Tangier Disease neuropathies can vary among affected individuals, with symptoms typically appearing in childhood or early adulthood. The severity and specific symptoms may also differ, even among family members with the same genetic mutation. There is currently no cure for Tangier Disease, and treatment primarily focuses on mitigating symptoms and preventing complications. This may involve the use of medications to manage pain, physical and occupational therapies to improve muscle function and mobility, and lifelong monitoring to detect and address potential cardiovascular complications associated with the abnormal lipid metabolism.
