THIRD EDITION
Factsheet
Condition:
Tangier disease
Inheritance:
Autosomal recessive
Genetic Etiology:
Mutation in ABC1 gene encoding ATP-binding cassette-1 gene
Frequency:
Rare
Clinical features:
Tangier disease presents with enlarged, orange tonsils, hepatosplenomegaly, enlarged lymph nodes, hypocholesterolemia, and low plasma high density lipoproteins. There is early onset of coronary artery disease. The pathophysiology involves inability to transport cholesterol to the cell surface required to synthesize HDL.
Management:
Supportive care
Genetic counseling:
Found mostly in specific isolated populations; autosomal recessive transmission.