LCAT deficiency

LCAT de·fi·cien·cy

a rare condition characterized by corneal opacities, hemolytic anemia, proteinuria, renal insufficiency, and premature atherosclerosis, and low levels of lecithin cholesterol acyltransferase (LCAT) activity; results in accumulation of unesterfied cholesterol in plasma and tissues.

LCAT de·fi·cien·cy

(dĕ-fish'ĕn-sē)
A rare condition characterized by corneal opacities, hemolytic anemia, proteinuria, renal insufficiency, and premature atherosclerosis, and very low levels of lecithin cholesterol acyltransferase (LCAT) activity; results in accumulation of unesterfied cholesterol in plasma and tissues.
References in periodicals archive ?
Although LpX is not thought to contribute to cardiovascular disease, particles get trapped in the glomerulus where they can cause end-stage renal disease in patients with familial LCAT deficiency.
It could also play a role in a rare hereditary disorder called familial LCAT deficiency in which the LCAT enzyme is absent.
In contrast, in LCAT deficiency there is effective cholesterol efflux from cholesterol-loaded macrophages followed by defective maturation of pre-[beta] HDL to [alpha] HDL; accelerated catabolism, primarily of LpAI:AII as well as LpAI; and renal disease, but no increased risk of CVD (125, 126).
Role of LCAT in HDL remodeling: an investigation in LCAT deficiency states.
Importantly, patients with LCAT deficiency and Tangier disease often have decreased LDL-C concentrations, which may be one factor offsetting the low HDL-C concentrations (7, 10).
LCAT deficiency is associated with markedly decreased HDL-C concentrations, whereas LCAT overexpression in mice and rabbits markedly increases HDL-C concentrations.