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[Cerebral vascular complication of hyperhomocysteinemia. Controlling thromboembolic complications with folates]
M Candito1, P Bedoucha, D Jambou
1Laboratoire de Biochimie, Hôpital Pasteur, Nice.
Insights
High homocysteine levels in young patients can lead to cardiovascular events. Folic acid supplementation effectively treated thromboembolism in a patient with a methylenetetrahydrofolate reductase gene mutation.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Metabolic Disorders
Background:
- Hyperhomocysteinemia, elevated homocysteine levels, is linked to cardiovascular events in young individuals.
- Genetic factors and metabolic pathways influence homocysteine levels.
- Understanding the causes of hyperhomocysteinemia is crucial for managing vascular risks.
Observation:
- A 40-year-old female smoker presented with cerebrovascular disease and hyperhomocysteinemia.
- She experienced recurrent thromboembolism in cerebral and lower limb arteries.
- Anticoagulant therapy with vitamin K antagonists was challenging due to unstable prothrombin levels.
Findings:
- Genetic investigation revealed homozygosity for the C677T methylenetetrahydrofolate reductase gene mutation.
- No factor V gene mutation (G1691A), a known thrombosis risk factor, was identified.
- Folic acid supplementation successfully prevented further thromboembolic episodes and stabilized prothrombin levels over a 2-year follow-up.
Implications:
- The common C677T mutation alone may not fully explain the benefits of folate supplementation in all cases.
- Additional genetic mutations affecting homocysteine metabolism could potentiate vascular events.
- Targeted genetic screening and metabolic pathway analysis are important for personalized cardiovascular risk management.
Background:
Young patients who experience cardiovascular events may have raised levels of homocysteine. There may be several causes for this hyperhomocysteinemia.
Case Report:
Cerebrovascular disease occurred in a 40-year-old female smoker with hyperhomocysteinemia. This patient subsequently had several episodes of thromboembolism involving the brain and lower limb arteries. Prothrombin concentration was difficult to control with antivitamin K anticoagulants. Investigations to identify a genetic cause of hyperhomocysteinemia revealed that she was homozygous for the C677T mutation on the methylenetetrahydrofolate reductase gene. There was no G1691A mutation of the factor V gene, a risk factor for familial thrombosis. Supplementation with folic acid successfully halted episodes of thromboembolism (follow-up 2 years) and prothrombin levels stabilized under treatment.
Discussion:
The C677T mutation, which is common in the general population (15.7%), cannot explain the effect of folate supplementation alone. Other mutations affecting homocysteine metabolism could have a potentializing effect on vascular events.