Acid Lipase Disorder

This test measures the activity of acid lipase enzymes in the blood.

• The test is typically performed to diagnose and monitor acid lipase deficiency disorders, such as Wolman disease and cholesteryl ester storage disease (CESD). These conditions can lead to lipid accumulation in various organs. • To diagnose Wolman disease and cholesterol ester storage disease caused by lysosomal acid lipase deficiency.

This test is recommended when there is suspicion of acid lipase deficiency disorders, especially in individuals with symptoms like hepatosplenomegaly (enlarged liver and spleen), abdominal pain, and lipid metabolism abnormalities.

A positive result may indicate low acid lipase enzyme activity in the blood, suggesting the possibility of acid lipase deficiency disorders.

The test involves a blood draw, where a healthcare professional collects a blood sample, usually from a vein in the arm. The procedure is minimally invasive and relatively quick.

Patients typically do not need specific preparations before the test. However, it's important to follow any instructions provided by the healthcare provider.

• Additional tests and genetic testing may be ordered alongside the Acid Lipase Disorder test to confirm the diagnosis and assess the specific enzyme deficiency. • Liver Function Tests: Since acid lipase disorders can affect the liver, liver function tests may be ordered to assess liver health and detect any abnormalities in liver enzyme levels. • Cholesterol and Triglyceride Testing: Acid lipase disorders can lead to abnormal cholesterol and triglyceride levels. Measuring lipid levels in the blood can provide important information for diagnosis and management.

The Acid Lipase Disorder test may also be referred to as the LAL-D test or lysosomal acid lipase deficiency test.