apoA-1 deficiency

Last reviewed 04/2021

Complete ApoA-I Deficiency Familial apolipoprotein A-I (apoA-I) defects may be caused by complete deficiency of the apoA-I gene or by mutations in the apoA-I gene.

• genetic deficiency of apoA-I may be due to the deletion of the gene or to nonsense mutations that prevent the synthesis of apoA-I protein, which results in an absence of plasma high-density lipoprotein (HDL)
• p atients with this disorder sometimes display cutaneous xanthomas. The risk of premature cardiovascular disease in patients with apoA-I deficiency may be increased, but the onset of symptoms varies from the third to the seventh decade

References:

1. Norum RA, Lakier JB, Goldstein S, et al. Familial deficiency of apolipoproteins A-I and C-III and precocious coronary-artery disease. N Engl J Med. 1982;306:1513–1519.
2. Schaefer EJ, Heaton WH, Wetzel MG, Brewer HB Jr. Plasma apolipoprotein A-1 absence associated with a marked reduction of high density lipoproteins and premature coronary artery disease. Arteriosclerosis. 1982;2:16–26.
3. Ng D, Leiter L, Vezina C, et al. Apolipoprotein A-1 Q[-2]X causing isolated apolipoprotein A-1 deficiency in a family with analphalipoproteinemia. J Clin Invest. 1994;93:223–229.
4. Breslow JL. Familial disorders of high-density lipoprotein metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York: McGraw-Hill; 1995:2031–2052.