Case description of stroke in a female patient with heterozygous MTHFR C677T mutation: Lessons learned in stroke prevention and the importance of continuity of care for women with multiple risk factors for thrombosis

Abstract

Case Description: A 58 year-old female with a history of antiphospholipid syndrome (APS) with multiple DVTs, spontaneous abortions, hypertension (HTN), hyperlipidemia (HLD), type 2 diabetes mellitus (T2DM), and tobacco use disorder presented to the hospital with dysarthria and headache for three days. Evaluation revealed a left MCA thrombotic CVA. Testing at the time of stroke was negative for antibodies associated with APS, but revealed heterozygous mutation of MTHFR C677T. Prior to this stroke, she had recently established care with a new primary care provider and cardiologist. She reported previously following with a hematologist who managed her APS with folic acid and vitamin D. She was prescribed no anticoagulation therapy and was taking 81 mg aspirin daily at the time of this event.

Conclusions: There is mixed evidence regarding the patient’s diagnosis of APS as the underlying factor causing multiple DVTs. Nevertheless, the treatment for APS in the setting of multiple prior DVTs is anticoagulation, which was not part of the patient’s treatment plan prior to her stroke. A more detailed investigation of the patient’s medical history and re-evaluation of appropriate treatment when establishing care would have helped optimize her care and may have prevented her stroke.

Clinical significance: Compared to men, women experience worse health outcomes after stroke, including increased mortality. When women are establishing care with new providers, this disruption in continuity of care presents an opportunity for re-evaluation of their risk factors and optimal primary prevention of stroke. This case illustrates how immediate investigation of a patient’s pre-existing diagnoses and treatment plan after a transition of care may help prevent poor health outcomes for women.