Cholesteryl Ester Storage Disease synonyms

Cholesteryl Ester Storage Disease Synonyms

Cholesteryl Ester Storage Disease (CESD) is a rare genetic disorder that affects the metabolism of lipids in the body. It is also known by several other names, including:

• Lysosomal Acid Lipase Deficiency (LAL-D): This term refers to the underlying cause of CESD, which is a deficiency of the enzyme lysosomal acid lipase. This enzyme is responsible for breaking down cholesteryl esters and triglycerides in the lysosomes of cells.


• Wolman Disease: Wolman Disease is a severe form of LAL-D that typically presents in infancy. It is characterized by the accumulation of cholesteryl esters and triglycerides in various organs, leading to organ dysfunction and failure.


• Cholesteryl Ester Storage Disease Type 2 (CESD2): CESD2 is a specific subtype of CESD that is caused by mutations in the LIPA gene. It is characterized by a milder clinical presentation compared to Wolman Disease.


• Cholesteryl Ester Storage Disease Type 3 (CESD3): CESD3 is another subtype of CESD that is caused by mutations in the LIPA gene. It is also associated with a milder clinical course compared to Wolman Disease.


• Noncirrhotic Portal Hypertension: This term refers to a complication of CESD that can occur in some individuals. It is characterized by the development of high blood pressure in the portal vein, which carries blood from the intestines to the liver.

CESD is a progressive disorder that can affect multiple organ systems, including the liver, spleen, and cardiovascular system. It can lead to a range of symptoms, such as hepatomegaly (enlarged liver), splenomegaly (enlarged spleen), dyslipidemia, and liver dysfunction. Early diagnosis and management are crucial to prevent or minimize complications associated with CESD.