Hereditary Lecithin- Cholesterol Acyltransferase (LCAT) Deficiency is a rare disorder that causes a dyslipidemia.

LCAT is an enzyme in the plasma that esterifies cholesterol and is involved in the metabolism of high-density lipoprotein (HDL) cholesterol.


Chromosome location: 16q22.1


Inheritance: autosomal recessive


Clinical features:

(1) nephropathy which may include the nephrotic syndrome

(2) corneal opacity

(3) variable splenomegaly


Laboratory findings:

(1) decreased plasma HDL-cholesterol

(2) presence of lipoprotein X

(3) normochromic, normocytic anemia with target cells and stomatocytes

(4) proteinuria

To read more or access our algorithms and calculators, please log in or register.