What is the prevalence of Lysosomal acid lipase deficiency?
How many people does Lysosomal acid lipase deficiency affect? Does it have the same prevalence in men and women? And in the different countries?
Lysosomal acid lipase deficiency is a rare genetic disorder characterized by the buildup of fats within cells due to a deficiency of the enzyme lysosomal acid lipase. It is estimated that the prevalence of this condition is approximately 1 in 40,000 to 1 in 300,000 individuals worldwide. Lysosomal acid lipase deficiency can present in infancy, childhood, or adulthood, with varying degrees of severity. Early diagnosis and treatment are crucial to prevent complications and improve outcomes for affected individuals.
Lysosomal acid lipase deficiency (LAL-D) is a rare genetic disorder characterized by the buildup of lipids in various organs and tissues due to a deficiency of the enzyme lysosomal acid lipase. This autosomal recessive disorder can manifest in two forms: early-onset LAL-D, also known as Wolman disease, which presents in infancy and is rapidly progressive, and late-onset LAL-D, also known as cholesteryl ester storage disease (CESD), which typically presents in childhood or adulthood and progresses more slowly.
The prevalence of LAL-D varies depending on the population studied and the specific form of the disease. Estimates suggest that the incidence of Wolman disease is approximately 1 in 500,000 to 1 in 1,000,000 live births. On the other hand, the prevalence of CESD is thought to be higher, ranging from 1 in 40,000 to 1 in 300,000 individuals. However, due to underdiagnosis and misdiagnosis, the true prevalence of LAL-D may be underestimated.
Early recognition and diagnosis of LAL-D are crucial for appropriate management and treatment. Genetic testing and enzyme activity assays are used to confirm the diagnosis. Enzyme replacement therapy and lipid-lowering medications are available treatment options for LAL-D, aiming to reduce lipid accumulation and improve organ function.
