Tangier disease

Tangier disease is a rare disorder of lipoprotein metabolism. It is most well known for causing an almost complete absence of high-density lipoproteins (HDL) in the blood. The disease is named after Tangier Island, where it was first studied in affected families. People with this condition may experience enlargement of the liver, spleen, lymph nodes, and tonsils. In children and adolescents, peripheral neuropathy (nerve problems) is common, while some adults may experience cardiovascular issues. This overview is supported by key medical sources detailing the biochemical and clinical features of Tangier disease.

Common signs in people with Tangier disease include an almost complete absence of high-density lipoproteins, enlargement of the liver, spleen, lymph nodes, and tonsils, as well as peripheral neuropathy in younger individuals. Occasionally, adults with the condition might experience cardiovascular issues.

Tangier disease is caused by mutations in the ABCA1 gene, which is important in the formation and regulation of high-density lipoproteins. When this gene is affected, the body has trouble managing cholesterol and fat transport, leading to the symptoms seen in this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.