Clinical findings:
(1) onset after infancy
(2) malabsorption with malnutrition
(3) variable history of failure to thrive during childhood
(4) thickened bowel walls from lipid deposition in the intestine
(5) hepatomegaly and liver disease secondary to hepatic accumulation of cholesterol esters and triglycerides (steatosis), with progression to cirrhosis and liver failure
(6) splenomegaly with hypersplenism
(7) xanthelasma
(8) arteriosclerosis with coronary artery disease and/or peripheral arterial disease
Laboratory findings:
(1) elevated total serum cholesterol
(2) elevated serum LDL cholesterol
(3) elevated serum triglycerides
(4) low serum HDL cholesterol
If the deficiency is mild then the patient may have a relatively normal life expectancy.
