familial HDL deficiency
CARDIOVASCULAR DISEASE, METABOLISM
Definition An autosomal dominant disorder (OMIM:604091) characterised by moderately low HDL cholesterol, increased risk of premature coronary artery disease, and reduced cellular cholesterol efflux
Molecular pathology Defects of ABCA1, which encodes an ATP-binding cassette—ABC transporter protein that acts as a cholesteral efflux pump in intracellular lipid removal, cause familial HDL deficiency.
Synonyms Familial hypoalphalipoproteinemia, HDL cholesterol—low serum, HDLC, HDLD, high-density lipoprotein deficiency, high-density lipoprotein deficiency type 2, primary hypoalphalipoproteinemia