Tangier Hereditary Neuropathies
Tangier hereditary neuropathies, also known as Tangier disease or familial high-density lipoprotein (HDL) deficiency, is a rare genetic disorder characterized by the absence or severe deficiency of HDL cholesterol in the bloodstream. This condition is inherited in an autosomal recessive manner, meaning that both parents must pass on a mutated gene for a child to be affected.
Individuals with Tangier hereditary neuropathies often exhibit several clinical manifestations, including peripheral neuropathy, which is the impairment or damage to the nerves in the peripheral nervous system. Common symptoms include pain, weakness, numbness, and tingling sensations that typically begin in the feet and hands and gradually progress further up the limbs.
Additionally, individuals with Tangier hereditary neuropathies may have enlarged orange or yellow tonsils, which can contribute to swallowing difficulties and obstructive sleep apnea. These individuals may also present with hepatosplenomegaly, a condition characterized by the enlargement of both the liver and spleen.
Apart from the physical symptoms, affected individuals often suffer from a significantly increased risk of atherosclerosis, the buildup of plaque in the arteries, due to the low levels of HDL cholesterol. This can lead to cardiovascular complications, such as heart attacks and strokes.
Although there is currently no cure for Tangier hereditary neuropathies, management primarily focuses on treating the symptoms and reducing cardiovascular risks. This may involve pain management, physical therapy, and interventions to address the respiratory and cardiovascular aspects of the condition.
