Tangier disease is associated with accumulation of cholesteryl ester in tissues due to abnormal efflux of cholesterol from within cells. It was named after inhabitants of Tangier Island in the Chesapeake Bay.
Chromosome: 9q31.1
Gene: ABCA1 (ATP binding cassette subfamily A member 1)
Function: cholesterol efflux pump for lipid removal
Inheritance: autosomal recessive
Clinical findings:
(1) enlarged yellow-orange tonsils
(2) hepatosplenomegaly
(3) lymphadenopathy
(4) variable peripheral neuropathy
(5) yellow-orange lymphoid tissue along the gastrointestinal tract
Laboratory findings:
(1) low plasma cholesterol concentration
(2) very low to absent high-density lipoprotein (HDL)
(3) absent alpha-lipoprotein on lipoprotein electropheresis
(4) reduced LDL concentration
(5) elevated triglyceride concentration
(6) stomatocytosis
A biopsy of an affected site shows an accumulation of cholesterol within macrophages.
