What is the prevalence of Cholesteryl Ester Storage Disease?

How many people does Cholesteryl Ester Storage Disease affect? Does it have the same prevalence in men and women? And in the different countries?

Cholesteryl Ester Storage Disease, also known as CESD, is a rare genetic disorder characterized by the accumulation of cholesteryl esters in various tissues. The exact prevalence of CESD is not well-established, but it is considered to be extremely rare. It is estimated that CESD affects less than 1 in 100,000 individuals worldwide. This condition is caused by mutations in the LIPA gene, which leads to impaired activity of the lysosomal acid lipase enzyme. CESD can present with a wide range of symptoms, including hepatomegaly, splenomegaly, and dyslipidemia. Early diagnosis and management are crucial for improving outcomes in individuals with CESD.

Cholesteryl Ester Storage Disease (CESD) is a rare genetic disorder that affects the metabolism of lipids in the body. It is caused by mutations in the LIPA gene, which leads to a deficiency in the enzyme lysosomal acid lipase (LAL). This enzyme is responsible for breaking down cholesteryl esters and triglycerides in the lysosomes of cells.

The exact prevalence of CESD is not well-established, as it is a rare condition and often goes undiagnosed or misdiagnosed. However, it is estimated to affect approximately 1 in 40,000 to 1 in 150,000 individuals worldwide. The prevalence may vary among different populations and ethnicities.

CESD can present at any age, from infancy to adulthood, and its symptoms can range from mild to severe. Common symptoms include hepatomegaly (enlarged liver), splenomegaly (enlarged spleen), elevated liver enzymes, and dyslipidemia. If left untreated, CESD can lead to progressive liver disease, cardiovascular complications, and other serious health issues.

Early diagnosis and treatment are crucial for managing CESD. Enzyme replacement therapy (ERT) and other supportive measures can help alleviate symptoms and improve the quality of life for individuals with CESD. Genetic counseling is also recommended for affected individuals and their families to understand the inheritance pattern and potential risks.

CESD is a rare genetic disorder with an estimated prevalence of 1 in 40,000 to 1 in 150,000 individuals worldwide. Early diagnosis and appropriate management are essential for improving outcomes and preventing complications associated with this condition.

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