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Test Description
The Acid Lipase test, also known as the Lysosomal Acid Lipase (LAL) test, measures the activity of the lysosomal acid lipase enzyme in the blood.
This enzyme is crucial for breaking down fats and cholesterol within the body.
Deficiency in this enzyme can lead to serious health issues, including lysosomal acid lipase deficiency (LALD), which manifests in two primary forms: Wolman disease (WD) and cholesteryl ester storage disease (CESD).
- Wolman Disease (WD):
- Onset: typically presents in infancy.
- Symptoms: Includes severe gastrointestinal issues such as vomiting and diarrhea, failure to thrive, abdominal distension, hepatosplenomegaly (enlarged liver and spleen), and liver failure. Patients may also exhibit adrenal gland calcification, leading to adrenal insufficiency.
- Prognosis: Without treatment, survival beyond infancy is rare
2. Cholesteryl Ester Storage Disease (CESD):
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- Onset: Can manifest at any age, often later in childhood or adulthood.
- Symptoms: Symptoms may include progressive hepatomegaly, splenomegaly, elevated liver enzymes, and lipid abnormalities. Patients may also experience delayed growth milestones in childhood and are at risk for premature atherosclerosis, which can lead to coronary artery disease and strokes.
- Diagnosis: Often diagnosed incidentally during evaluations for liver disease.
The test is essential for diagnosing these conditions, which can result in liver disease and other complications due to lipid accumulation.
Indications of the Acid Lipase Test
This test is indicated for:
- Evaluation of patients with symptoms suggestive of lysosomal acid lipase deficiency.
- Monitoring individuals at risk for conditions related to lipid metabolism disorders.
- Assessing liver function abnormalities that may be linked to lipid storage diseases.
Patient Preparation/Instructions
Patients are generally advised to:
- Fast for at least 8 hours before the test to ensure accurate results.
- Inform their healthcare provider of any medications or supplements they are taking, as these may affect enzyme levels.
Typical Reference Values
Normal reference values for lysosomal acid lipase activity can vary by laboratory but are typically:
- Above 1.5 nmol/h/mL: indicative of normal enzyme function.
- Below 1.5 nmol/h/mL: suggestive of lysosomal acid lipase deficiency.
Turnaround Time
The turnaround time for results is usually 3 to 7 days, depending on the laboratory processing the sample.
Order This Test
To order the acid lipase test, please click the ‘Order Test’ button and add it to your cart. This will initiate the process for your laboratory testing needs.
