Homocysteine

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Elevated levels may indicate deficiency of Vit B6/12 or a risk for cardiovascular and neurological disorders

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Homocysteine Test Information Guide

Why is it done?
- Measures the blood level of homocysteine, an amino acid produced during methionine metabolism
- Assess risk for cardiovascular disease, including heart attack and stroke
- Evaluate risk for venous thromboembolism and deep vein thrombosis
- Screen for vitamin B12, folate, and vitamin B6 deficiencies
- Diagnose homocystinuria and other inborn errors of metabolism
- Evaluate patients with recurrent pregnancy loss or thrombosis
- Monitor patients with established cardiovascular disease or thrombotic conditions
Normal Range
- Normal homocysteine levels: 4-15 μmol/L (micromoles per liter)
- Optimal level: <10 μmol/L
- Borderline elevated: 15-30 μmol/L
- Elevated (mild hyperhomocysteinemia): 30-100 μmol/L
- Severely elevated (homocystinuria): >100 μmol/L
- Normal interpretation: Indicates adequate metabolism of homocysteine and reduced cardiovascular and thrombotic risk. Suggests sufficient B vitamins (B12, B6, folate) for proper homocysteine processing.
- Abnormal interpretation: Elevated levels indicate hyperhomocysteinemia, associated with increased risk for atherosclerosis, thrombosis, cognitive decline, and other vascular complications.
Interpretation
- Low/Optimal (<10 μmol/L): Indicates excellent homocysteine metabolism with minimal cardiovascular risk from this marker. Patient likely has adequate B vitamin status.
- Normal (10-15 μmol/L): Acceptable homocysteine levels with normal cardiovascular and thrombotic risk from this parameter. Associated with adequate B vitamin cofactors.
- Borderline Elevated (15-30 μmol/L): Mild hyperhomocysteinemia with modest increase in cardiovascular and thrombotic risk. May reflect mild B vitamin deficiencies or genetic variations. Suggests lifestyle modifications and B vitamin supplementation.
- Elevated (30-100 μmol/L): Moderate hyperhomocysteinemia with significant cardiovascular and thrombotic risk. May indicate B12, B6, or folate deficiency; MTHFR gene variants; kidney disease; or hypothyroidism. Requires investigation and intervention.
- Severely Elevated (>100 μmol/L): Homocystinuria indicating severe metabolic defect. Associated with increased risk for vascular disease, thrombosis, ectopia lentis, intellectual disability, and skeletal abnormalities. Requires urgent investigation and aggressive treatment.
- Factors affecting results:
  - Age (levels increase with age)
  - Gender (higher in men than premenopausal women)
  - B vitamin intake and status (B12, B6, folate deficiencies increase levels)
  - Kidney function (reduced renal clearance elevates levels)
  - Genetic factors (MTHFR, cystathionine beta-synthase mutations)
  - Medications (methotrexate, phenytoin, some contraceptives)
  - Medical conditions (hypothyroidism, PCOS, diabetes)
  - Lifestyle factors (smoking, caffeine, exercise habits)
Associated Organs
- Primary organ systems:
  - Cardiovascular system (heart, arteries, veins)
  - Nervous system (brain, peripheral nerves)
  - Renal system (kidneys - primary elimination pathway)
  - Hepatic system (liver - metabolism of methionine)
- Diseases and conditions associated with elevated homocysteine:
  - Cardiovascular diseases: atherosclerosis, coronary artery disease, myocardial infarction, stroke, peripheral arterial disease
  - Thrombotic disorders: venous thromboembolism, deep vein thrombosis, pulmonary embolism, recurrent miscarriage
  - Neurological disorders: cognitive decline, Alzheimer's disease, Parkinson's disease, multiple sclerosis
  - Metabolic disorders: homocystinuria, cystathionine beta-synthase deficiency, methylenetetrahydrofolate reductase (MTHFR) deficiency
  - Vitamin deficiencies: B12 deficiency, folate deficiency, B6 deficiency
  - Renal disease: chronic kidney disease, end-stage renal disease
  - Thyroid disorders: hypothyroidism
  - Endocrine disorders: diabetes, polycystic ovary syndrome
- Potential complications from elevated homocysteine:
  - Vascular endothelial dysfunction and inflammation
  - Platelet activation and thrombosis
  - Vascular smooth muscle proliferation and atherosclerosis
  - Oxidative stress and reactive oxygen species generation
  - Neurotoxicity and cognitive impairment
Follow-up Tests
- Recommended tests for elevated homocysteine:
  - Vitamin B12 level - assess for deficiency as cause of elevated homocysteine
  - Folate (folic acid) level - screen for folate deficiency
  - Vitamin B6 (pyridoxal-5-phosphate) - evaluate B6 status
  - Comprehensive metabolic panel - assess kidney function and electrolytes
  - Thyroid function tests (TSH, free T4) - check for hypothyroidism
  - MTHFR genetic testing - identify genetic mutations affecting homocysteine metabolism
  - Lipid panel - assess overall cardiovascular risk profile
  - C-reactive protein (CRP) - measure vascular inflammation
- Cardiovascular risk assessment tests:
  - Electrocardiogram (ECG) - assess cardiac rhythm and structural abnormalities
  - Stress testing or coronary imaging - evaluate for cardiac ischemia in symptomatic patients
  - Carotid intima-media thickness ultrasound - assess subclinical atherosclerosis
- For suspected genetic homocystinuria:
  - Plasma methionine level - differentiate types of homocystinuria
  - Cystathionine beta-synthase (CBS) enzyme activity testing
  - Genetic testing for CBS, MTHFR, MTR, and MTRR gene mutations
  - Ophthalmologic examination - screen for ectopia lentis and lens dislocation
  - Skeletal survey - assess for marfanoid features and bone abnormalities
- Monitoring recommendations:
  - Repeat homocysteine testing: Every 3-6 months during initial treatment; annually for stable patients
  - B vitamin levels: Recheck 4-8 weeks after supplementation to assess adequacy
  - Kidney function: Monitor annually or more frequently if renal disease present
Fasting Required?
- Fasting Status: YES - Fasting is required for accurate homocysteine testing
- Fasting duration: Minimum 10-12 hours overnight fast. Ideally obtain blood sample in early morning after fasting overnight.
- Fasting instructions:
  - Do NOT consume food or beverages other than water after midnight the night before testing
  - Water is permitted throughout the fasting period
  - Avoid coffee, tea, juice, and other beverages during fasting
- Medications:
  - Take regular medications as prescribed with a small amount of water unless otherwise instructed
  - Inform laboratory staff of all current medications, as some may affect homocysteine levels
  - Do NOT discontinue prescribed medications without physician approval
- Additional preparation requirements:
  - Arrive well-rested and avoid extreme stress immediately before testing
  - Avoid strenuous exercise the day before testing
  - Limit or avoid caffeine and alcohol for 24 hours before testing
  - Do not smoke before the test
  - Specimen collection: Blood sample collected via venipuncture into a tube with anticoagulant
  - Prompt plasma separation required - sample should be centrifuged within 15 minutes to prevent artifactual increase

How our test process works!