Abstract Details

Title Methylenetetrahydrofolate Reductase (MTHFR) Gene Polymorphism May Potentiate Other Risk Factors in Young Adult Females with Cryptogenic Ischemic Stroke

Topic Cerebrovascular Disease and Interventional Neurology

Presentation(s) P4 - Poster Session 4 (5:00 PM-6:00 PM)

Poster/Presentation
Number 14-010

Objective Our study aims to evaluate the role of methylenetetrahydrofolate reductase gene polymorphism in cryptogenic ischemic stroke among young adult females, assessing for synergistic effects between stroke risk factors and other thrombogenic factors.

Background The role of inherited thrombophilia such as methylenetetrahydrofolate reductase (MTHFR) gene polymorphism (C677T and A1298C) in ischemic stroke (IS) is unclear. MTHFR, a vital enzyme involved in converting homocysteine to methionine, regulates homocysteine levels. Literature reports increased stroke risk in young adults with MTHFR polymorphism and elevated homocysteine levels.

Design/Methods

A retrospective cohort study by querying electronic medical records to identify females with MTHFR gene polymorphism and IS. A descriptive analysis was performed.

Results A cohort of 12 females were identified, median age of 32 years (IQR 28,49), with MTHFR polymorphism and cryptogenic IS from 2021 to 2023. The MTHFR gene polymorphism included 3 patients with C677T heterozygosity, 4 with A1298C heterozygosity, 1 with A1298C homozygosity, and 4 with compound heterozygosity. Of these, 5 had experienced large vessel occlusion strokes, and 4 had a history of recurrent strokes while on optimal secondary stroke prevention. Risk factors were hormone therapy (HrT) in 8, migraine with aura in 9, and both migraine and HrT in 7 patients. Diagnostic workup revealed interatrial shunt in 3 patients, 1 with concomitant heterozygous Factor V Leiden and 1 with weakly positive lupus anticoagulant based on prolonged silica clot time. Comprehensive stroke workups with prolonged cardiac monitoring were negative, and all patients had normal homocysteine levels.

Conclusions MTHFR genetic polymorphisms, individually or in concert with other stroke risk factors, such as HrT or migraines with aura, may be associated with cryptogenic IS in young adult females. Further work exploring MTHFR polymorphism testing in the evaluation of cryptogenic IS in young adult females is warranted, even with normal serum homocysteine levels.

Authors/Disclosures
Josephine Arewa PRESENTER	Miss Arewa has nothing to disclose.
Emily R. Fisher, MD	Dr. Fisher has nothing to disclose.
Bradford B. Worrall, MD, MSc, FAAN (University Of Virginia Health System)	The institution of Dr. Worrall has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for AAN. The institution of Dr. Worrall has received research support from NIH. The institution of Dr. Worrall has received research support from AHA/ASA.
Karen C. Johnston, MD, MSC (University of Virginia)	Dr. Johnston has received personal compensation in the range of $500-$4,999 for serving as a Consultant for University of Pittsburg. Dr. Johnston has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Mayo Clinic. Dr. Johnston has received personal compensation in the range of $500-$4,999 for serving as a Consultant for University of California Irvine. Dr. Johnston has received personal compensation in the range of $500-$4,999 for serving as a Consultant for NIH. Dr. Johnston has received personal compensation in the range of $500-$4,999 for serving as a Consultant for FDA. The institution of Dr. Johnston has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. The institution of Dr. Johnston has received research support from NIH.
Rohini Bhole, MD, MS, FAAN (University of Virginia Health System)	Dr. Bhole has nothing to disclose.

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