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Hereditary Antithrombin Deficiency Presenting with Cerebral Venous Thrombosis in Three Members of a Family

V V Ashraf1, K Abdul Salam1, Rajesh Kizhedath2

  • 1Department of Neurology, Meitra Hospital, Edakkad PO, Calicut, Kerala, India.

Neurology India
|November 6, 2023
PubMed

Insights

Hereditary antithrombin deficiency, a rare blood clotting disorder, can cause cerebral vein thrombosis (CVT). This study highlights its occurrence in three family members, emphasizing genetic testing and lifelong anticoagulation for affected individuals.

Area of Science:

  • Genetics
  • Hematology
  • Neurology

Background:

  • Hereditary antithrombin (AT) deficiency is a rare genetic disorder increasing thrombophilia risk.
  • Cerebral vein thrombosis (CVT) is a serious condition associated with thrombophilia.
  • Identifying genetic thrombophilia is crucial for managing anticoagulation and preventing venous thromboembolism (VTE).

Keywords:
Cerebral vein thrombosisSERPINC1 mutationfamilial antithrombin deficiencyhereditary thrombophilia

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