Cholesteryl Ester Storage Disease (CESD) is a hereditary condition caused by mutations in the LIPA gene. It is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected. CESD leads to the accumulation of cholesteryl esters in various organs, causing a range of symptoms. Genetic testing can help determine the risk of inheriting CESD and provide valuable information for family planning.
Cholesteryl Ester Storage Disease (CESD) is a rare genetic disorder that affects the metabolism of cholesterol. It is caused by mutations in the LIPA gene, which provides instructions for producing an enzyme called lysosomal acid lipase (LAL). LAL is responsible for breaking down cholesterol esters and triglycerides in the lysosomes, which are cellular compartments involved in waste disposal.
Yes, CESD is hereditary and follows an autosomal recessive pattern of inheritance. This means that an individual must inherit two copies of the mutated LIPA gene, one from each parent, to develop the disease. If both parents carry one copy of the mutated gene, there is a 25% chance with each pregnancy that their child will inherit both copies and be affected by CESD.
It is important to note that individuals who inherit only one copy of the mutated gene are considered carriers and typically do not show symptoms of CESD. However, they can pass the mutated gene on to their children.
The symptoms of CESD can vary widely, ranging from mild to severe. They may include hepatomegaly (enlarged liver), splenomegaly (enlarged spleen), elevated liver enzymes, low levels of HDL cholesterol, and in some cases, liver and cardiovascular complications. The age of onset and disease progression can also vary, with some individuals experiencing symptoms in childhood while others may not develop symptoms until adulthood.
Diagnosis of CESD is typically confirmed through genetic testing, which can identify mutations in the LIPA gene. Additionally, blood tests and imaging studies may be used to assess liver and lipid abnormalities.
Treatment for CESD focuses on managing symptoms and preventing complications. This may involve dietary modifications, such as a low-cholesterol diet, and medications to manage cholesterol levels. In some cases, liver transplantation may be considered for individuals with severe liver involvement.