Lysosomal acid lipase deficiency may present either during infancy or later. Cholesterol ester storage disease (CESD) may involve a spectrum of findings depending on the severity of the lipase deficiency.


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.


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