Newcastle Laboratories

Sitosterol and Campesterol (Phytosterols)

Clinical Background:

Sitosterol and campesterol are measured in the investigation of phytosterolaemia (sitosterolaemia), a rare autosomal recessive disorder of the sterol ATP binding cassette transporters ABCG5 and ABC...

Sitosterol and campesterol are measured in the investigation of phytosterolaemia (sitosterolaemia), a rare autosomal recessive disorder of the sterol ATP binding cassette transporters ABCG5 and ABCG8.  Patients with defective ABCG5 and ABCG8 have enhanced absorption and reduced bile excretion of sterols including sitosterol and campesterol.

The clinical presentation of the disorder is variable but some patients develop xanthoma and premature atherosclerosis.  Some have elevated LDL cholesterol.

Investigation of phytosterolaemia should be considered in patients with clinical features of familial hypercholesterolaemia, in particular tendon xanthoma, but with normal serum cholesterol, or elevated cholesterol but no FH gene mutation identified.

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Test Details

  • Discipline:

    Biochemistry

    Biochemistry

  • Specimen Container Adult:

    Lithium heparin plasma

    Lithium heparin plasma

  • Specimen Container Paediatric:

    Lithium heparin plasma

    Lithium heparin plasma

  • Minimum Volume Adult:

    2 mL blood, 1 mL plasma

    2 mL blood, 1 mL plasma

  • Minimum Volume Paediatric:

    1 mL blood, 0.5 mL plasma

    1 mL blood, 0.5 mL plasma

  • Special Requirement:

    Protect from light. 

    Blood sample should be centrifuged on receipt in the laboratory and the plasma separated and frozen.

    Please provide clinical information including details of any lipid-lowering...

    Protect from light. 

    Blood sample should be centrifuged on receipt in the laboratory and the plasma separated and frozen.

    Please provide clinical information including details of any lipid-lowering therapy.

     

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  • Transport Requirements:

    NUTH users: send sample to the laboratory at ambient temperature, protected from light

    External hospitals: send sample to the RVI frozen and protected from light

    NUTH users: send sample to the laboratory at ambient temperature, protected from light

    External hospitals: send sample to the RVI frozen and protected from light

  • Interpretation:

    Patients with phytosterolaemia have very high circulating levels of sitosterol and campesterol.  

    Mildly increased sitosterol and campesterol are also found in patients with familial hypercholester...

    Patients with phytosterolaemia have very high circulating levels of sitosterol and campesterol.  

    Mildly increased sitosterol and campesterol are also found in patients with familial hypercholesterolaemia so use of the sterol/cholesterol ratio can improve the diagnostic sensitivity and specificity of the test.

    Exposure to light may cause degradation of sterols.

    A diagnosis of phytosterolaemia should be confirmed by gene mutation analysis.

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  • Reference Ranges:

     

    Reference Ranges for Sterols in Plasma and Serum

    Sterol

    Adults (18 years and over)

    Paediatrics (under 18 yrs)

    Units

    Cholesterol

    2500 – 7200

    1900 – 4900

    µmol/L

    Sitoster...

     

    Reference Ranges for Sterols in Plasma and Serum

    Sterol

    Adults (18 years and over)

    Paediatrics (under 18 yrs)

    Units

    Cholesterol

    2500 – 7200

    1900 – 4900

    µmol/L

    Sitosterol

    Less than 8.7

    Less than 8.5

    µmol/L

    Campesterol

    Less than 13.7

    Less than 10.4

    µmol/L

     

    Reference Ranges for Sterol/Cholesterol ratios

    Sterol ratio

    Adults  (18 years and over)

    Paediatrics (under 18 yrs)

    Units

    Sitosterol/cholesterol

    0.21 – 1.90

    0.05 – 1.70

    µmol/mmol

    Campesterol/cholesterol

    0.26 – 2.80

    0.20 – 2.84

    µmol/mmol

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  • Other Info:

    Serum or EDTA plasma are also acceptable, but must be protected from light.

    Serum or EDTA plasma are also acceptable, but must be protected from light.

  • Routine Contact Name:

    Duty Biochemist

  • Routine Telephone:

    Freeman: 0191 244 8889

    RVI: 0191 282 9719

    Freeman: 0191 244 8889

    RVI: 0191 282 9719

  • Routine Email:

  • Specialist Test:

    Yes

    Yes

  • Specialist Contact Name:

    Metabolic Clinical Scientist

    Metabolic Clinical Scientist

  • Specialist Telephone:

    0191 282 9685 (Consultant Clinical Scientist)

    0191 282 0334 (Metabolic Laboratory)

    0191 282 9685 (Consultant Clinical Scientist)

    0191 282 0334 (Metabolic Laboratory)

  • Specialist Email:

Availability:

Available during full access hours
Assayed monthly
Site of analysis: RVI

Turn Around:

Within 8 weeks

Send To:

Department of Blood Sciences

Level 3
Leazes Wing
Royal Victoria Infirmary
Queen Victoria Road
Newcastle upon Tyne
NE1 4LP

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