Lysosomal Acid Lipase Deficiency (LAL-D)

 

LAL-D is a genetic disease that leads to liver damage, high blood cholesterol, and other complications due to a build-up of certain types of fats (cholesteryl esters and triglycerides). LAL-D affects people of all ages, from infancy through adulthood. Both males and females can have LAL-D.

People born with LAL-D are not able to break down fatty materials because their bodies do not make enough of an enzyme called lysosomal acid lipase (LAL). People with LAL-D have very little or no LAL enzyme in their blood. When the body does not have enough LAL, fatty material (primarily cholesteryl esters and triglycerides) builds up in the liver, heart, and other organs, and causes problems.2

Infants diagnosed with LAL-D begin to show severe symptoms at the first months of life. In infants, LAL-D causes severe malabsorption, growth failure, liver fibrosis, and liver cirrhosis. Children with LAL-D usually begin to show symptoms at the fifth year of life. The clinical manifestations from the liver include elevation of the liver enzymes, enlargement of the liver, potential progression to liver fibrosis, cirrhosis and liver failure. The clinical manifestations from the cardiovascular system include an increase in bad cholesterol, a decrease in good cholesterol and accelerated atherosclerosis.1

As with other rare diseases, diagnosis is often delayed and LAL-D can be commonly confused with other more common conditions. Because people with LAL-D have very little or no LAL enzyme in their blood, the diagnosis can be made with a blood test which measures the amount of LAL enzyme.3

 

Bibliography:

Bernstein DL, Hülkova H, Bialer MG, Desnick RJ. J Hepatol. 2013;58(6):1230-1243
Jones SA, Valayannopoulos V, Schneider E, et al. Genet Med. 2016 May;18(5):452-8.
Reiner, Guardamagna O, Nair D, et al. Atherosclerosis. 2014;235(1):21-30