Cholesteryl Ester Storage Disease (CESD) is a rare genetic disorder characterized by the accumulation of cholesteryl esters in various tissues throughout the body. It is caused by mutations in the LIPA gene, which provides instructions for producing the enzyme lysosomal acid lipase (LAL), responsible for breaking down cholesteryl esters and triglycerides.
In individuals with CESD, a deficiency in LAL activity leads to the buildup of cholesteryl esters, a type of fat molecule, primarily in the liver, spleen, and blood vessels. Over time, this abnormal lipid accumulation can result in organ damage and dysfunction.
Symptoms of CESD can vary widely and may begin in infancy, childhood, or adulthood. Common features include hepatomegaly (enlarged liver), hyperlipidemia (elevated lipid levels in the blood), and abnormal liver function tests. Some individuals may also experience splenomegaly (enlarged spleen), low platelet count, or liver fibrosis.
Diagnosis of CESD usually involves a combination of clinical evaluation, imaging studies, and biochemical tests. Genetic testing can confirm the presence of mutations in the LIPA gene.
Management of CESD primarily focuses on symptom relief and disease monitoring. Treatment options may include a low-fat diet, lipid-lowering medications, and supportive care to address complications such as liver disease or anemia. In severe cases, liver transplantation may be necessary.
Overall, CESD is a rare genetic disorder characterized by lipid accumulation, primarily affecting the liver and spleen. Early diagnosis and proactive management are crucial in improving the prognosis and quality of life for individuals with this condition.
