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Test ID LALBS Lysosomal Acid Lipase, Blood Spot

Useful For

Evaluation of patients with a clinical presentation suggestive of lysosomal acid lipase deficiency in blood spot specimens

Reporting Name

Lysosomal Acid Lipase, BS

Specimen Type

Whole blood


Necessary Information


Provide a reason for referral with each specimen.



Specimen Required


Supplies: Card-Blood Spot Collection (Filter Paper) (T493)

Collection Container/Tube:

Preferred: Blood spot collection card (T493)

Acceptable: Ahlstrom 226 Filter Paper, Munktell TFN, and Whatman Protein Saver 903 Paper

Specimen Volume: 2 blood spots

Collection Instructions:

1. An alternative blood collection option for a patient >1 year of age is fingerstick.

2. Let blood dry on the filter paper at ambient temperature in a horizontal position for 3 hours.

3. Do not expose specimen to heat or direct sunlight.

4. Do not stack wet specimens.

5. Keep specimen dry.

Additional Information:

1. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777) in Special Instructions.

2. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800) in Special Instructions.


Specimen Minimum Volume

1 blood spot

Specimen Stability Information

Specimen Type Temperature Time
Whole blood Refrigerated (preferred) 28 days
  Frozen  90 days
  Ambient  7 days

Clinical Information

Deficiency of lysosomal acid lipase (LAL) results in 2 clinically distinct phenotypes, Wolman disease (WD) and cholesteryl ester storage disease (CESD). Both phenotypes follow an autosomal recessive inheritance pattern and are caused by mutation in the LIPA gene.

 

WD, the early onset phenotype of LAL deficiency, is a lipid storage disorder characterized by vomiting, diarrhea, failure to thrive, abdominal distension, and hepatosplenomegaly. Peripheral blood lymphocytes are vacuolated and foam cells are present in the bone marrow. Approximately 50% of infants have adrenal calcifications. WD typically presents in the first weeks of life and is fatal in infancy.

 

CESD, the late onset phenotype of LAL deficiency, is clinically variable with patients presenting at any age with progressive hepatomegaly and often splenomegaly, leading to microvesicular steatosis and often, liver failure.

 

CESD is likely underdiagnosed and frequently diagnosed incidentally after liver pathology reveals findings similar to nonalcoholic fatty liver disease (NAFLD) or nonalcoholic steatohepatitis (NASH). Birefringent cholesteryl ester crystals in hepatocytes or Kupffer cells in fresh-frozen tissues are visualized under polarized light and pathognomonic. Elevated total cholesterol, low-density lipoprotein cholesterol, and triglycerides lead to premature atherosclerosis.

 

Historically, treatment options for WD and CESD were limited, but enzyme replacement therapy is now clinically available.

Reference Values

≥21.0 nmol/h/mL

Interpretation

Enzyme activity below 1.5 nmol/hour/mL in properly submitted samples is consistent with lysosomal acid lipase deficiency: Wolman disease or cholesteryl ester storage disease.

 

Normal results (≥21.0 nmol/hour/mL) are not consistent with lysosomal acid lipase deficiency.

Clinical Reference

1. Bernstein DL, Hulkova H, Bialer MG, Desnick RJ: Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol 2013;58:1230-1243

2. Reynolds T: Cholesteryl ester storage disease: a rare and possibly treatable cause of premature vascular disease and cirrhosis. J Clin Pathol 2013;66:918-923

Day(s) and Time(s) Performed

Varies

Analytic Time

8 days

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

82657

LOINC Code Information

Test ID Test Order Name Order LOINC Value
LALBS Lysosomal Acid Lipase, BS In Process

 

Result ID Test Result Name Result LOINC Value
62955 Lysosomal Acid Lipase, BS 73958-1
36341 Reviewed By No LOINC Needed
36340 Interpretation (LALBS) 59462-2

Method Name

Fluorometric Enzyme Assay

Forms

1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

2. Biochemical Genetics Patient Information (T602) in Special Instructions.