familial HDL deficiency

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familial HDL deficiency2016-11-25T20:05:57+00:00

familial HDL deficiency


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

Reference http://www.omim.org/entry/604091

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