Key result
Isolated apoA-I deficiency resulted in marked HDL deficiency with very low apoA-II alpha-3 HDL particles, premature coronary atherosclerosis, and no evidence of fat malabsorption.
Observational (n=12)
Isolated apoA-I deficiency causes marked HDL deficiency, specific alterations in HDL subpopulations, and premature coronary atherosclerosis without fat malabsorption.
No takes yet. Share an insight, caveat, or question.
May signal high premature CAD risk in severe HDL deficiency; hypothesis-generating for apoA-I effects on HDL subspecies.
Santos et al. (2007) conducted an observational in Familial apolipoprotein A-I deficiency (n=12). Familial apolipoprotein A-I deficiency (APOA1 nonsense mutation Q[-2]X) vs. Normal subjects within the kindred was evaluated on HDL subspecies and fat-soluble vitamin levels. Isolated apoA-I deficiency resulted in marked HDL deficiency with very low apoA-II alpha-3 HDL particles, premature coronary atherosclerosis, and no evidence of fat malabsorption.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: