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Rees, Abigail; Chen, Jian; Coughlan, Charles; Goodison, William; Chandratheva Arvind
Journal of neurology, neurosurgery and psychiatry, 11/2023, Letnik: 94, Številka: Suppl 1Journal Article
We present a case of a 49M with a large left MCA territory ischaemic stroke and combined venous arterial thrombosis. His past medical history was significant for Crohn’s disease and anabolic steroid use for body building. Young stroke screen was negative except for a severely elevated homocysteine, and folate deficiency. He was also found to be a homozygous carrier of the methylenetetrahydrofolate reductase enzyme mutation (MTHFR 667 C->T). The aetiology of this stroke was a hypercoagulable state induced by raised serum homocysteine. Anabolic steroids have been shown to increase serum homocysteine levels. The MTFHR enzyme mutation is known to increase stroke risk. Patients who have this mutation and abuse anabolic steroids or have poor folate levels may be higher risk for stroke.In summary ischaemic stroke can occur in the setting of severe elevations of homocysteine. Anabolic steroid use is an important risk factor to consider in cases of young stroke with elevated serum homocyst- eine. Testing for MFTHR mutations in stroke patients with raised homocysteine and low folic acid levels may be useful to guide secondary stroke prevention through adequate vitamin supplementation. Further studies looking into primary and secondary stroke prevention in the high risk MTHFR mutation cohort are necessary.
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