A Study of Clinical, Radiological, and Thrombophilia Profiles in Cerebral Venous Sinus Thrombosis

A BSTRACT Introduction: Cerebral venous sinus thrombosis (CVST) is a relatively uncommon condition. We studied the clinical, radiological, and thrombophilia profiles of 70 patients who had clinical and radiological evidence of CVST. Methods: The study was conducted at a tertiary care center in western Maharashtra for 2 years. It was a prospective, cross-sectional, observational study conducted on inpatients from September 2019 to September 2021. Seventy patients with clinical features and neuroimaging consistent with the diagnosis of CVST were included. A detailed clinical history and physical examination were performed by the clinician. The neuroimaging findings used for the diagnosis of CVST were based on the presence of direct signs on computerized tomography/magnetic resonance imaging brain scans and/or magnetic resonance venography. A detailed thrombophilia profile, including homocysteine levels and methyl-tetrahydrofolate reductase (MTHFR) gene mutation analysis, was conducted in cases of hyperhomocysteinemia. Alcohol and tobacco consumption history was also recorded and considered important risk factors for CVST. Results: The mean age of presentation was 35 years. Sixty-one percent of the patients were males. Headache was the most common clinical presentation, and pailloedema was the most common clinical sign. Increased D-dimer levels were seen in 91% of cases. Increased homocystine levels were seen in 25% of cases, and MHFR gene mutation was present in 55% of these cases. Twenty-seven percent of patients had provoking factors, such as oral contraceptive (OC) pills, puerperium, polycythemia, and parainfectious causes, with the most common provoking factor being the use of OC pills, observed in 52% of cases. Thirty-nine percent of patients had a positive thrombophilia profile. Sixteen percent of cases with a positive thrombophilia profile had associated risk factors such as alcohol or tobacco consumption. The transverse and sigmoid sinuses were the most commonly involved sinuses. Conclusion: CVST is a multifactorial disease. This study underscores the importance of conducting a comprehensive thrombophilia profile workup, which should include homocystine levels and MTHFR gene mutation analysis. These factors are crucial for determining the appropriate duration of use of anticoagulants. Individuals with homozygous MTHFR gene mutations require lifelong anticoagulation. Additionally, alcohol and tobacco use are important risk factors.