[MIM 278 000]

(Deficit in LAL, LAL deficiency, cholesterol ester storage disease)Rare. Autosomal recessive transmission of a mutation of the LIPA gene on 10q24.q25. Other mutations in the same gene can produce a severe liver disease, Wolman disease (see this topic). This enzyme is necessary for the degradation of cholesterol esters in endosomes and lysosomes. There is a progressive accumulation of cholesterol esters and trigycerides in the liver macrophages. The symptoms and signs of the disease vary depending on the residual activity of the enzyme in vivo:

-         hepatomegaly starting often before the age of 10 years: evolving to fibrosis, cirrhosis or liver failure (reported case as soon as the age of 7 years)

-         splenomegaly (30%)

-         hyperlipemia, variable hypertriglyceridemia, hypercholesterolemia (LDL cholesterol)

-         sometimes early atherosclerosis

Symptomatic treatment: low-fat diet, cholesterol-lowering drug, HMG - CoA reductase inhibitors, cholestyramine

Sometimes: liver transplantation

Experimental treatment with sebelipase alpha.

Anesthetic implications: 

check liver function; avoid TIVA propofol (triglyceride overload)

References : 

-        Héron B, Guffon N. 
Progrès dans les maladies lysosomiales, 
in Maladies métaboliques héréditaires, coordonné par B Chabrol & P de Lonlay, Doin, 2011, p 25-55

-        Burton BK, Deegan PB, Enns GM, Guardemagna O et al.
Clinical features of lysosomal acid lipase deficiency.
J Pediatr Gastroenterol Nutr 2015 ; 61 : 619-25

Updated: July 2018