Lysosomal acid lipase deficiency synonyms

Lysosomal acid lipase deficiency synonyms:

Lysosomal acid lipase deficiency is a rare genetic disorder that affects the breakdown and metabolism of lipids in the body. It is also known by several other names, including:

• Wolman disease


• Cholesterol ester storage disease (CESD)


• LAL-D


• LAL deficiency

Wolman disease is a severe form of lysosomal acid lipase deficiency that typically presents in infancy. It is characterized by the accumulation of cholesterol esters and triglycerides in various organs, leading to organ dysfunction and failure. Infants with Wolman disease often experience failure to thrive, hepatosplenomegaly (enlarged liver and spleen), malabsorption, and adrenal calcification.

Cholesterol ester storage disease (CESD) is a milder form of lysosomal acid lipase deficiency that typically presents later in childhood or adulthood. It is characterized by the accumulation of cholesterol esters and triglycerides primarily in the liver, spleen, and blood vessels. Symptoms of CESD may include hepatomegaly (enlarged liver), elevated liver enzymes, dyslipidemia, and atherosclerosis.

LAL-D and LAL deficiency are abbreviations commonly used to refer to lysosomal acid lipase deficiency. These terms encompass both Wolman disease and CESD, as they represent the overall deficiency of the lysosomal acid lipase enzyme.

Lysosomal acid lipase deficiency is a progressive disorder that can have significant impacts on an individual's health and quality of life. Early diagnosis and appropriate management are crucial for optimizing outcomes and preventing complications associated with the disease.