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Test Code CHLE Cholesteryl Esters, Serum

Reporting Name

Cholesteryl Esters, S

Useful For

Establishing a diagnosis of lecithin-cholesterol acyltransferase deficiency

 

Evaluating the extent of metabolic disturbance by bile stasis or liver disease

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Serum


Specimen Required


Collection Container/Tube:

Preferred: Serum gel

Acceptable: Red top

Submission Container/Tube: Plastic vial

Specimen Volume: 1 mL

Collection Instructions: Centrifuge and aliquot serum into plastic vial. Send refrigerated.


Specimen Minimum Volume

0.5 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Serum Refrigerated (preferred) 7 days
  Frozen  60 days
  Ambient  24 hours

Reference Values

≥18 years: 60-80% of total cholesterol

Reference values have not been established for patients who are less than 18 years of age.

Day(s) Performed

Monday through Friday

Test Classification

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

CPT Code Information

84311

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CHLE Cholesteryl Esters, S 21197-9

 

Result ID Test Result Name Result LOINC Value
CHLES Cholesteryl Esters, S 21197-9

Clinical Information

Cholesterol in the blood serum is normally 60% to 80% esterified with fatty acids, largely as a result of the action of the enzyme lecithin-cholesterol acyltransferase (LCAT), which circulates in the blood in association with the high-density lipoproteins.

 

Familial deficiency of LCAT is uncommon, usually occurring in individuals of northern European descent, and is associated with erythrocyte abnormalities (target cells) and decreased (20% or less) esterification of serum cholesterol. LCAT deficiency is associated with early atherosclerosis, corneal opacification, hyperlipidemia, and mild hemolytic anemia. In persons who are deficient in LCAT, a much smaller percentage of the serum cholesterol is esterified. Persons who have a familial deficiency of LCAT have only 20% or less of serum cholesterol esterified. In association with a deficiency of LCAT, the concentration of unesterified cholesterol in the serum may increase 2 to 5 times the normal value and the concentration of lecithin may also increase.

 

Persons with liver disease may have impaired formation of LCAT and, therefore an acquired LCAT deficiency and reduced cholesterol ester.

Interpretation

Persons who have a familial deficiency of lecithin-cholesterol acyltransferase have only 20% or less of serum cholesterol esterified.

Cautions

Cholesteryl ester storage disease exists as a severe form that is fatal before the age of 1 year (Wolman's disease) and as a subtle form that in some cases has been undetected until adulthood. This disease is caused by a deficiency of a lysosomal enzyme, acid cholesteryl ester hydrolase (also known as acid lipase). Its deficiency causes accumulation of cholesteryl esters in tissues, but it has no effect on the percentage of esterified cholesterol that circulates in the blood serum. Detection of the defect requires careful evaluation of the cholesteryl ester hydrolase activity and cholesteryl ester content of leukocytes, cultured fibroblasts, and liver biopsy specimens.

Report Available

1 to 3 days

Reject Due To

Gross hemolysis Reject
Gross lipemia OK
Gross icterus Reject

Method Name

Enzymatic Colorimetric

Forms

If not ordering electronically, complete, print, and send a Cardiovascular Test Request Form (T724) with the specimen.