Apolipoprotein A-I deficiency

What is Apolipoprotein A-I deficiency?

A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).

Other condition names

  • ApoA-I deficiency
  • Familial apoA-I deficiency
  • Familial hypoalphalipoproteinemia

Inheritance type

Autosomal dominant


  • Worldwide: <1 in 1,000 000
  • Europe: <1 in 1,000 000

Age of Onset

  • All ages
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.