Tangier Disease Neuropathy, also known as Tangier disease or familial high-density lipoprotein deficiency (FHBL), is a rare genetic disorder characterized by an impairment in the metabolism of lipids, particularly the high-density lipoprotein (HDL) cholesterol. This condition was first documented in the population of Tangier Island, Virginia, hence its name.
Individuals with Tangier Disease Neuropathy exhibit extremely low levels of HDL cholesterol in their blood, leading to the accumulation of cholesterol esters in various tissues and organs, such as the tonsils, liver, spleen, lymph nodes, and peripheral nerves. This buildup of cholesterol esters causes these organs and tissues to have an enlarged, orange appearance, which is one of the defining characteristics of Tangier disease.
The neuropathy associated with Tangier Disease Neuropathy occurs due to the deposition of cholesterol ester crystals in the peripheral nerves, leading to their damage and subsequent dysfunction. As a result, affected individuals often experience weakness, numbness, tingling, and pain in their extremities, particularly in the hands and feet. This neuropathy may progress over time, causing muscle weakness and loss of sensation, thus impairing mobility and coordination.
In addition to neuropathy, individuals with Tangier Disease Neuropathy may also exhibit other common symptoms such as hepatosplenomegaly (enlarged liver and spleen), an orange discoloration of the tonsils, lymphadenopathy (swollen lymph nodes), and cardiovascular complications such as premature atherosclerosis.
Tangier Disease Neuropathy is caused by mutations in the ABCA1 gene, which is responsible for the production of a protein that plays a crucial role in the transport of cholesterol and other lipids out of cells. Due to the
