Familial HDL deficiency. A genetic disease due to a mutation in the gene for the HDL protein. Characterized by very low plasma HDL and cholesterol levels, an accumulation of cholesterol esters in the tissues, and a peculiar yellow orange color to the tonsils.
Tangier disease is an extremely rare autosomal recessive metabolic disorder. The disease is characterized by decreased levels or even a complete absence of high-density lipoproteins (HDL) concentrations in one’s plasma and increased cholesteryl esters in the tonsils, spleen, liver, skin, and lymph nodes.
An uncommon disorder inherited through an autosomal recessive gene, leading to cholesterol accumulation in multiple organs such as the tonsils, liver, and spleen.