How is Cholesteryl Ester Storage Disease diagnosed?
See how Cholesteryl Ester Storage Disease is diagnosed. Which specialists are essential to meet, what tests are needed and other useful information for the diagnosis of Cholesteryl Ester Storage Disease
Cholesteryl Ester Storage Disease (CESD) is a rare genetic disorder characterized by the accumulation of cholesteryl esters in various tissues and organs of the body. It is caused by mutations in the LIPA gene, which encodes for the enzyme lysosomal acid lipase (LAL). LAL is responsible for breaking down cholesteryl esters and triglycerides in the lysosomes.
Diagnosing CESD can be challenging due to its variable presentation and overlap with other conditions. However, there are several key diagnostic methods that can be employed:
Clinical Evaluation: A thorough medical history and physical examination are essential in the diagnostic process. The presence of symptoms such as hepatomegaly (enlarged liver), splenomegaly (enlarged spleen), dyslipidemia, and liver dysfunction may raise suspicion of CESD.
Laboratory Tests: Blood tests can provide valuable information in diagnosing CESD. Elevated liver enzymes, low levels of high-density lipoprotein (HDL) cholesterol, and increased levels of low-density lipoprotein (LDL) cholesterol and triglycerides may be observed. Additionally, a blood test called lysosomal acid lipase activity assay can measure the activity of the LAL enzyme, which is typically reduced in CESD.
Imaging Studies: Imaging techniques such as ultrasound, computed tomography (CT), or magnetic resonance imaging (MRI) may be used to assess the size and condition of the liver and spleen. These tests can help identify hepatomegaly and splenomegaly, which are common findings in CESD.
Liver Biopsy: A liver biopsy may be performed to confirm the diagnosis of CESD. During this procedure, a small sample of liver tissue is obtained and examined under a microscope. The presence of lipid-laden macrophages (foam cells) in the liver tissue is a characteristic feature of CESD.
Genetic Testing: Genetic testing is the most definitive method for diagnosing CESD. It involves analyzing the LIPA gene for mutations that are known to cause the disease. This test can confirm the presence of genetic abnormalities associated with CESD.
It is important to note that CESD is a progressive disorder, and early diagnosis is crucial for implementing appropriate management strategies. Therefore, if CESD is suspected based on clinical evaluation and laboratory findings, further diagnostic tests, including genetic testing, should be pursued to confirm the diagnosis.
