Cholesterol Ester Storage Disease (CESD) is a rare genetic disorder characterized by the impaired breakdown and metabolism of fats, specifically cholesterol esters, in the body. It is classified as a lysosomal storage disorder, as it results from the dysfunctional activity of the lysosomal acid lipase enzyme.
In individuals with CESD, the lysosomal acid lipase enzyme is either deficient or completely absent, leading to the accumulation of cholesterol esters within various tissues and organs, primarily the liver, spleen, and cardiovascular system. This abnormal build-up of cholesterol esters can result in the formation of fatty deposits, causing damage and dysfunction to affected organs.
The disease can manifest in varying ways, with symptoms ranging from mild to severe. Common clinical features of CESD include hepatomegaly (enlarged liver), splenomegaly (enlarged spleen), elevated liver enzymes, and lipid abnormalities. Some individuals may also experience gastrointestinal disturbances, growth retardation, and progressive liver fibrosis.
The inheritance pattern of CESD is autosomal recessive, meaning that an affected individual inherits two copies of the defective gene, one from each parent. Diagnosis of CESD involves clinical evaluation, genetic testing, and biochemical analyses to confirm the absence or inadequacy of the lysosomal acid lipase enzyme.
Management of CESD mainly involves symptomatic treatment to alleviate specific symptoms and complications, such as the use of lipid-lowering medications to control cholesterol levels and liver transplantation in severe cases. Genetic counseling is recommended for affected individuals and their families, as CESD has a familial tendency.
