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HomocysteineAka: Hyperhomocysteinemia
- See Also
- Epidemiology
- Elevated in 15-30% of patients with premature CAD
- Pathophysiology
- Folate needed to convert homocysteine to methionine
- May reduce CAD risk by lowering homocysteine levels
- Dose response curve: lowest Folate, Highest risk
- Causes: Hyperhomocysteinemia
- Vitamin Deficiency
- Folate Deficiency
- Vitamin B6 Deficiency
- Vitamin B12 Deficiency
- Chronic Disease
- Chronic Renal Failure
- Hypothyroidism
- Psoriasis
- Cancer
- Tobacco abuse
- Medications
- Anticonvulsants
- Methotrexate
- Nitrous Oxide
- Homocystinuria (Inherited)
- Vitamin Deficiency
- Complications: High homocysteine levels
- Coronary Artery Disease
- Cerebrovascular Accident
- Peripheral Vascular Disease
- Deep venous thrombosis
- Hypertension
- Dementia may also be related
- Labs: Protocol for Blood Total Homocysteine concentrations
- Step 1: Collect
- Draw in tube with anticoagulant
- EDTA, Heparin, or Sodium Citrate
- Step 2: Process
- Spin sample within 30 minutes of collection
- Otherwise risk of false elevation from RBCs
- Step 3: Storage
- Refrigerate up to 2-3 weeks OR
- Frozen for 2-3 months
- Step 1: Collect
- Labs: Homocysteine Level Interpretation
- Optimal Homocysteine: <12 umol/L
- Borderline Homocysteine: 12-15 umol/L
- Hyperhomocysteinemia: >15 umol/L
- Management
- Homocysteine lowering therapy lowers CAD risk
- Measures to lower homocysteine levels
- Folic Acid supplementation
- Vitamin B12 Supplementation
- Vitamin B6 supplementation
- References
- Management: Folate Dosing Protocol
- High risk patient with Homocysteine >12 umol/L
- Multivitamin (with 400 ug folate) qd AND
- Folic Acid 800 ug qd
- Recheck Homocysteine Level in 8 weeks: Normal
- Continue Multivitamin
- Discontinue Folic Acid
- Recheck Homocysteine again in 8 weeks
- Recheck Homocysteine Level in 8 weeks: >12 umol/L
- Continue Multivitamin
- Increase Folic Acid to 2 mg qd for 8 weeks
- Folic Acid is Safe <5mg/day
- Recheck Homocysteine again in 8 weeks
- If normal
- Continue Multivitamin
- Discontinue folate
- If still increased
- Check Vitamin B6 Level
- Increase Folate to 5 mg/day
- Assess patient compliance
- Test for other causes
- If normal
- High risk patient with Homocysteine >12 umol/L
- References
Hyperhomocysteinemia (C0598608) | |
|---|---|
| Definition (MSH) | An inborn error of methionone metabolism which produces an excess of homocysteine in the blood. It is often caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and is a risk factor for coronary vascular disease. |
| Concepts | Disease or Syndrome (T047) |
| MSH | D020138 |
| English | Hyperhomocysteinemia, Hyperhomocysteinemias |
| Spanish | hiperhomocisteinemia |
| Parent Concepts | Amino Acid Metabolism, Inborn Errors (C0002514), Disorder of sulfur-bearing amino acid metabolism (C0268613) |
| Sources | CSP, MSH, NDFRT, SCTSPA, SNOMEDCT Derived from the NIH UMLS (Unified Medical Language System) |
Homocysteine cysteine disulfide:Substance Concentration:Point in time:Serum/Plasma:Quantitative (C1315089) | |
|---|---|
| Concepts | Clinical Attribute (T201) |
| English | Hycs-Cys diS SerPl-sCnc |
| Parent Concepts | Science of Chemistry (C0007996) |
| Sources | LNC Derived from the NIH UMLS (Unified Medical Language System) |
