Queston #21036Note

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