Tangier disease is an inherited condition, first described in two siblings from the Tangier island of Virginia in the Chesapeake Bay in 1961 and named after the island. There is a significant decrease in HDL, which is also known as the good cholesterol, and accumulation of cholesterol esters in many organs within the body, particularly the reticuloendothelial systems. These organs will appear yellow-orange in color and larger in size. That is why these patients will have an increased risk of premature cardiovascular events at a younger age than normal individuals.
Clinically, it is characterized by enlargement of the liver, spleen, lymph nodes, and tonsils associated with peripheral neuropathy in children and adolescents.
Alshaikhli A, Bordoni B. Tangier Disease. 2021 Aug 8. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan–. PMID: 32965921.