Haematologic disorders and cerebral venous thrombosis

Area of Science:

• Neurology
• Hematology
• Genetics

Background:

• Cerebral venous thrombosis (CVT) and cryptogenic cerebral infarction in young individuals are often associated with underlying hypercoagulable states.
• Understanding these clotting disorders is crucial for diagnosing and managing stroke, particularly in younger populations without other apparent risk factors.

Purpose of the Study:

• To review and summarize the various coagulation disorders (hypercoagulable states) associated with cerebral venous thrombosis.
• To highlight the importance of identifying these states, especially in young patients with stroke, to guide diagnosis and treatment.

Main Methods:

• Review of existing literature on hypercoagulable states and their association with cerebral venous thrombosis and stroke.
• Categorization of hereditary and acquired coagulation defects contributing to thrombotic events.
• Discussion of diagnostic work-up and implications for anticoagulation therapy and family screening.

Main Results:

• Common hereditary defects include deficiencies in antithrombin III, protein C, protein S, activated protein C resistance (often due to Factor V Leiden), and prothrombin 20211A mutation.
• Acquired disorders include antiphospholipid antibodies (lupus anticoagulant, anticardiolipin antibodies), and hyperhomocysteinemia.
• Rare defects involve heparin cofactor II, plasminogen or tissue plasminogen activator deficiency, elevated PAI-1, and dysfibrinogenemia.

Conclusions:

• A thorough work-up for hypercoagulable states is indicated in young patients with stroke or those lacking other risk factors.
• Individualized long-term anticoagulation decisions are necessary upon identification of a hypercoagulable state.
• Screening of family members may be appropriate when a hereditary hypercoagulable state is diagnosed.