Tangier disease
– due to autosomal recessive mutation in ABCA1 gene, which encodes the ATP cassette transporter protein
– Signs + sx: deficiency of HDL, enlarged tonsils with an orange-yellow discoloration, and peripheral neuropathy
– can also have hepatosplenomegaly, lymphadenopathy, thrombocytopenia, anemia, CAD, and corneal clouding
Home » Tangier disease » Queston #21036Note