Simultaneous Tromboembolic Events in a Patient with Heterozygous MTHFR Mutation

Abstract

Background: Hyperhomocysteinemia is a well recognised risk factor for arterial and venous thrombosis. The most common form results from methylenetetrahydrofolate reductase (MTHFR) gene mutations leading to decreased enzymatic activity. Case report:We present the case of a 34 year-old woman with a sudden onset of left hemiparesis and aphasia accompanied by retrosternal pain. She is diagnosed with acute posteroinferolateral myocardial infarction and stroke. Homocysteine level was determined and it was moderately elevated. The coronary angiogram revealed partially recanalised embolic occlusion of posterior left ventricular branch and posterior interventricular artery. A conservative treatment management is adopted. She remained haemodynamically stable, with complete resolution of neurological symptoms and evolution to subacute myocardial infarction. Conclusions:The particularity of our case is represented by symultaneous thromboembolic events causing myocardial infarction and ischemic stroke in a patient with a history of recurrent pregnancy loss, which was previously diagnosed with MTHFR gene mutation. Moderate hyperhomocysteinemia, also found in our patient, is recognised as an ethiopathogenic factor of thrombophilia. The right diagnosis and therapeutic approach could be the key to improved prognosis in this category of patients. MTHFR gene mutation causing hyperhomocysteinemia should be suspected in patients with thromboembolic events, especially when occuring repeatedly or at young ages. IntroductionThrombophilias are conditions associated with hypercoagulable status and increased risk of arterial and venous thrombosis, which represents a significant cause of mortality and morbidity worldwide [1]. The prothrombotic states may be inherited or acquired, but also due to genetic and environmental interactions [2]. Investigating for thrombophilia requires an initial evaluation of classical prothrombotic risk factors such as smoking, dyslipidemias, arterial hypertension or diabetes mellitus. Extended profile of investigations is necessary in patients with arterial or venous thrombosis which occur repeateadly, in unusual sites or at young ages, when family aggregation of thrombotic events is identified, as well as in women with recurrent idiopathic pregnancy loss. It must include a complete blood count and erythrocyte sedimentation rate, a blood film examination, prothrombin time (PT) and activated partial thromboplastin time (aPTT), factor V Leiden, antithrombin and fibrinogen levels, protein C and S, prothrombin gene mutations, homocysteinemia, methylenetetrahydrofolate reductase (MTHFR) gene mutations and antiphospholipid antibodies [3].Homocysteine has been recognised as a cardiovascular risk factor besides the traditional ones such as smoking, obesity, diabetes mellitus and arterial hypertension, in line with the observations made in patients with homocystinuria [4][5][6]. This is an inborn error of methionine metabolism caused by deficient activity of cysthationine β-synthase (CBS) and thereby impairmen...