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Hereditary thrombophilia in cerebral venous thrombosis: a study from India
Navin Pai1, Kanjaksha Ghosh, Shrimati Shetty
1National Institute of Immunohaematology, KEM Hospital, Parel, Mumbai, India.
Insights
This study investigated thrombophilia markers in Indian patients with cerebral venous thrombosis (CVT). Approximately one-fifth of patients had thrombophilia markers, with protein C deficiency being most common, aiding in diagnosis and reducing mortality.
Area of Science:
- Neurology
- Hematology
- Genetics
Background:
- Cerebral venous thrombosis (CVT) is a significant cause of neurological deficits.
- Systematic studies on thrombophilia markers in Indian CVT patients are limited.
Purpose of the Study:
- To determine the prevalence of common hereditary thrombophilia markers in a large cohort of Indian patients with CVT.
- To identify associations between thrombophilia markers and patient demographics.
Main Methods:
- A cohort of 612 CVT patients from Mumbai (2001-2010) were tested for protein C, protein S, antithrombin deficiencies, and Factor V Leiden mutation.
- Clinical manifestations, site of thrombosis, and associated pathologies were recorded.
- Patients were treated with heparin followed by warfarin.
Main Results:
- Eighteen percent of patients exhibited thrombophilia markers, with protein C deficiency being the most prevalent.
- Protein C deficiency was significantly higher in men under 45 (P=0.03), and protein S deficiency in women (P=0.04).
- Superior sagittal sinus thrombosis was the most common site (74%).
Conclusions:
- Thrombophilia markers are present in approximately one-fifth of Indian CVT patients.
- Early diagnosis and anticoagulation significantly reduced CVT-related mortality (13%).
- Pregnancy- and puerperium-related CVT was less common than previously reported.
Abstract:
A systematic study of thrombophilia markers in a large series of patients with cerebral venous thrombosis (CVT) from India is scarce. The present study was undertaken to know the prevalence of common hereditary thrombophilia in a large series of CVT patients from India. Six hundred and twelve (354 men, 219 women and 39 children) consecutive patients with CVT admitted to various hospitals in Mumbai between 2001 and 2010 were investigated for the common thrombophilia markers, that is, protein C (PC), protein S, antithrombin (AT), and factor V Leiden (FVL) mutation. The main presenting clinical manifestations included papilledema (62%), headache (62%), hemiparesis (48%), seizures (31%), and cranial nerve palsy (7%). All the patients were managed with heparin followed by warfarin during the succeeding 6 months. Superior sagittal sinus thrombosis was the commonest site (74%) followed by cortical venous thrombosis (15%). Associated clinical pathologies were dehydration, sepsis, pregnancy and puerperium, malaria, and tuberculosis; but in the majority of patients, there was no obvious cause. Eighteen percent of the patients had any of the thrombophilia markers studied; PC deficiency was the commonest thrombophilia marker followed by deficiency of protein S, FVL mutation and AT deficiency. The men below 45 years with PC deficiency (P=0.03) and women with protein S deficiency were significantly higher (P=0.04). In conclusion, CVT is not an uncommon cause of neurological deficit as was presented in earlier reports. Pregnancy and puerperium-related CVT was much less common. Thrombophilia markers accounted for approximately one-fifth of the patients. Death due to CVT has shown remarkable reduction (13%) because of early diagnosis and appropriate anticoagulation.
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