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.
Test Details
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Discipline:
Biochemistry
Biochemistry
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Specimen Container Adult:
Lithium heparin plasma
Lithium heparin plasma
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Specimen Container Paediatric:
Lithium heparin plasma
Lithium heparin plasma
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Minimum Volume Adult:
2 mL blood, 1 mL plasma
2 mL blood, 1 mL plasma
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Minimum Volume Paediatric:
1 mL blood, 0.5 mL plasma
1 mL blood, 0.5 mL plasma
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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...
Read MoreProtect 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
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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...
Read MorePatients 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...
Read MoreReference 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.
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Routine Contact Name:
Duty Biochemist
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Routine Telephone:
Freeman: 0191 244 8889
RVI: 0191 282 9719
Freeman: 0191 244 8889
RVI: 0191 282 9719
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Routine Email:
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Specialist Test:
Yes
Yes
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Specialist Contact Name:
Metabolic Clinical Scientist
Metabolic Clinical Scientist
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Specialist Telephone:
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
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Specialist Email: