CASE SERIES OF METHYLENE TETRAHYDROFOLATE REDUCTASE GENE POLYMORHISM IN CEREBRAL VENOUS SINUS THROMBOSIS PATIENTS
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Keywords
Cerebral venous thrombosis, MTHFR, Hyperhomocysteinemia
Abstract
Background: Cerebral venous sinus thrombosis (CVST) is a rare form of stroke with diverse etiologies, including genetic and metabolic factors. Hyperhomocysteinemia is a known prothrombotic risk factor, and polymorphisms in the methylene tetrahydrofolate reductase (MTHFR) gene particularly C677T and A1298C may contribute to elevated homocysteine levels. This study aimed to investigate the frequency of MTHFR gene polymorphisms in CVST patients with hyperhomocysteinemia.
Materials and Methods: A case series was conducted involving nine patients diagnosed with CVST and hyperhomocysteinemia. Clinical data including age, gender, lifestyle habits, and family history were recorded. Blood samples were analysed for plasma total homocysteine, serum folate, and vitamin B12 levels. Genotyping for MTHFR C677T and A1298C polymorphisms was performed using real-time PCR (RT-PCR). Results: The mean age of participants was 44.55 ± 10.32 years, with a female predominance (66.67%). Mean plasma homocysteine level was 23.76 ± 21.33 mmol/L, and 44.44% had homocysteine levels above the 90th percentile. One patient (11.1%) was homozygous and one (11.1%) heterozygous for the MTHFR C677T mutation, while two patients (22.2%) were heterozygous for the A1298C variant. Folate and vitamin B12 levels were below optimal in several cases, possibly contributing to elevated homocysteine levels.
Conclusion: This study suggests a potential association between MTHFR gene polymorphisms and hyperhomocysteinemia in CVST patients. MTHFR genotyping, alongside homocysteine assessment, may aid in identifying individuals at increased thrombotic risk and support personalized management approaches.
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Dr. Kaivalya Sudhir Gojamgunde
Junior Resident at Department of General Medicine, MGM Medical College and Hospital, Chhatrapati Sambhajingar, Maharashtra, India
Dr. Shantanu Ashok Shelke
Junior Resident at Department of General Medicine. MGM Medical College & Hospital Chhatrapati Sambhajingar, Marashtra, India
Dr. Gaurav Rajendra Patil
Junior Resident at Department of General Medicine. MGM Medical College & Hospital Chhatrapati Sambhajingar, Maharashtra, India
Dr. Jyoti Milind Kharche
Professor at Department of Medicine. MGM Medical College and Hospital, Chhatrapati Sambhajingar, Maharashtra, India