What is Cholesteryl Ester Storage Disease

Cholesteryl Ester Storage Disease (CESD) is a rare genetic disorder that affects the metabolism of fats in the body. It is characterized by the accumulation of cholesteryl esters, a type of fat, in various tissues and organs. CESD is caused by mutations in the LIPA gene, which is responsible for producing an enzyme called lysosomal acid lipase (LAL). This enzyme plays a crucial role in breaking down cholesteryl esters and triglycerides.

The buildup of cholesteryl esters in CESD primarily affects the liver, spleen, and adrenal glands. This can lead to hepatomegaly (enlarged liver), splenomegaly (enlarged spleen), and adrenal gland dysfunction. Symptoms may vary widely, ranging from mild liver abnormalities to severe liver disease, including cirrhosis. Other possible symptoms include elevated cholesterol levels, fatty deposits in blood vessels, and gastrointestinal issues.

Early diagnosis and treatment are crucial in managing CESD. Enzyme replacement therapy (ERT) is currently the mainstay of treatment, aiming to supplement the deficient LAL enzyme. ERT has shown promising results in reducing liver size, improving liver function, and decreasing cholesterol levels. Additionally, lifestyle modifications such as a low-fat diet and regular exercise can help manage symptoms and improve overall health.

If you suspect you or a loved one may have CESD, it is important to consult with a healthcare professional for proper evaluation, diagnosis, and management.