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Background and objectives <p>Cerebral venous thrombosis (CVT) is an uncommon but serious complication of pregnancy and the puerperium that arises in a physiologically hypercoagulable milieu. Hyperhomocysteinemia (HHcy) is a recognized metabolic risk factor for venous thrombosis, and common variants in the methylenetetrahydrofolate reductase (MTHFR) gene may influence homocysteine metabolism. However, the specific interplay between MTHFR variation, HHcy, and pregnancy-associated CVT remains insufficiently defined. This case series explored the clinical relevance of HHcy in obstetric CVT in the presence of the common MTHFR c.677&#xa0;C &gt; T polymorphism.</p> Methods <p>We conducted a retrospective single-center case series of four pregnant or postpartum patients with imaging-confirmed CVT, elevated plasma homocysteine, and documented MTHFR c.677&#xa0;C &gt; T genotypes. Clinical, radiological, laboratory, treatment, and short-term follow-up data were reviewed.</p> Results <p>Two patients were homozygous (TT) and two heterozygous (CT) for MTHFR c.677&#xa0;C &gt; T. All four patients had dural venous sinus thrombosis and elevated homocysteine at presentation. TT carriers showed higher homocysteine levels and appeared to have more severe neurological manifestations, including hemorrhagic venous infarction and generalized tonic-clonic seizures. CT carriers also had substantial thrombotic burden but showed comparatively less severe neurological involvement overall, although one experienced a prolonged seizure. All patients received therapeutic anticoagulation, with endovascular intervention in selected severe cases, together with folate, vitamin B₆ and B₁₂ supplementation. Homocysteine normalized in all patients by one month, accompanied by early clinical improvement.</p> Conclusions <p>In this case series, HHcy was observed in all four patients with pregnancy- or puerperium-associated CVT and the MTHFR c.677&#xa0;C &gt; T polymorphism, while higher homocysteine levels and more severe neurological manifestations were observed in the two TT carriers. These observations are exploratory and hypothesis-generating and do not support changes in routine homocysteine screening, MTHFR genotyping, or standard CVT management. Larger prospective multicenter studies are required to clarify the relationships among genotype, metabolic phenotype, and clinical outcomes.</p>

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Cerebral venous thrombosis during pregnancy and the puerperium in the setting of hyperhomocysteinemia and methylenetetrahydrofolate reductase c.677 C > T polymorphism

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  • 发表日期：

    2026年8月4日

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  • Xiaoming Zhang,
  • Kun Fang,
  • Chen Zhou,
  • Xunming Ji,
  • Ran Meng,
  • Da Zhou

摘要

Background and objectives

Cerebral venous thrombosis (CVT) is an uncommon but serious complication of pregnancy and the puerperium that arises in a physiologically hypercoagulable milieu. Hyperhomocysteinemia (HHcy) is a recognized metabolic risk factor for venous thrombosis, and common variants in the methylenetetrahydrofolate reductase (MTHFR) gene may influence homocysteine metabolism. However, the specific interplay between MTHFR variation, HHcy, and pregnancy-associated CVT remains insufficiently defined. This case series explored the clinical relevance of HHcy in obstetric CVT in the presence of the common MTHFR c.677 C > T polymorphism.

Methods

We conducted a retrospective single-center case series of four pregnant or postpartum patients with imaging-confirmed CVT, elevated plasma homocysteine, and documented MTHFR c.677 C > T genotypes. Clinical, radiological, laboratory, treatment, and short-term follow-up data were reviewed.

Results

Two patients were homozygous (TT) and two heterozygous (CT) for MTHFR c.677 C > T. All four patients had dural venous sinus thrombosis and elevated homocysteine at presentation. TT carriers showed higher homocysteine levels and appeared to have more severe neurological manifestations, including hemorrhagic venous infarction and generalized tonic-clonic seizures. CT carriers also had substantial thrombotic burden but showed comparatively less severe neurological involvement overall, although one experienced a prolonged seizure. All patients received therapeutic anticoagulation, with endovascular intervention in selected severe cases, together with folate, vitamin B₆ and B₁₂ supplementation. Homocysteine normalized in all patients by one month, accompanied by early clinical improvement.

Conclusions

In this case series, HHcy was observed in all four patients with pregnancy- or puerperium-associated CVT and the MTHFR c.677 C > T polymorphism, while higher homocysteine levels and more severe neurological manifestations were observed in the two TT carriers. These observations are exploratory and hypothesis-generating and do not support changes in routine homocysteine screening, MTHFR genotyping, or standard CVT management. Larger prospective multicenter studies are required to clarify the relationships among genotype, metabolic phenotype, and clinical outcomes.