(Kiosk 4) The Role of MTHFR Gene Mutation, Antiphospholipid Syndrome, and Tranexamic Acid as the Etiology of Ischemic Stroke

Case Diagnosis: Cerebral ischemic stroke due to a hypercoagulable state linked to genetic mutation, Antiphospholipid syndrome (APS), and/or Tranexamic Acid (TXA).

Case Description: A 36-year-old Hispanic female with a past medical history of menorrhagia presented to the ED due to sudden onset blurry vision, confusion, and word-finding difficulty.

Discussion: On further review of medical records, the patient had visited the ED multiple times due to menorrhagia and was started on oral TXA two weeks prior to the stroke, which favors thromboembolism and intravascular clotting. Cardiac workup was negative and a hypercoagulability panel was ordered.

Setting: The patient was discharged to an Acute Rehabilitation Hospital.

Assessment/Results: Blood work was remarkable for positive anti-cardiolipin and elevated beta 2 glycoprotein concerning for APS, however, this diagnosis can only be made after two abnormal blood test results with at least a 12-week gap between them. The patient was found to have an MTHFR mutation with normal homocysteine levels.

Conclusion: MTHFR is an enzyme that breaks down homocysteine, normal homocysteine levels are not at increased risk for clots. In this scenario, we should also emphasize adhering to follow-ups to identify the etiology, avoid future strokes, and decrease disability rates.