Massive pulmonary embolism associated with Factor V Leiden, prothrombin, and methylenetetrahydrofolate reductase gene mutations in a young patient on oral contraceptive pills: a case report.
ABSTRACT Factor V Leiden (Factor V G1691A), prothrombin gene mutation G20210A, and homozygous C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene are known to predispose venous thromboembolism (VTE). We present herein a rare case of a young woman heterozygous for these mutations and taking oral contraceptive pills for less than 2 months, diagnosed to have massive deep venous thrombosis and bilateral pulmonary embolism. The patient was managed for 10 days in the hospital and discharged home on oral anticoagulants. This case suggests that screening for these factors in people with family history of thrombosis and in relatives of patients with these mutations is highly recommended to prevent fatal consequences. In addition, a new guideline for treatment and prophylaxis with anticoagulant for these patients and others who are at risk of developing VTE (American College of Chest Physicians [ACCP] guidelines-Chest 2008) has been published recently. Our recommendation is to promote for the internationally published algorithms through their application, where necessary, to prevent any future thrombotic morbidity or mortality incidents.
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ABSTRACT: BACKGROUND: Pulmonary embolism (PE) is a life-threatening condition that is extremely uncommon in the healthy pediatric population. OBJECTIVE: Because pediatric PE is rarely on the Emergency Physician's differential diagnosis, with this case we hope to increase the clinical suspicion for PE in children who present to the Emergency Department (ED). CASE REPORT: This is a case of bilateral pulmonary embolism in a 16-year-old basketball player whose only risk factor is oral contraceptive medication. Initial vital signs demonstrated a temperature of 37.1°C (98.8°F), blood pressure 124/74 mm Hg, heart rate 74 beats/min, respiratory rate 16 breaths/min, and oxygen saturation 100% on room air. Subsequent vital signs, physical examination, chest radiograph, electrocardiogram, and laboratory assessments were all within normal limits. Using clinician gestalt in combination with the patient's Wells score of 0, a D-dimer was obtained and returned at 1916 ng/mL. The computed tomography scan with PE protocol detected a total of seven pulmonary emboli bilaterally. The patient was anticoagulated with Lovenox (Sanofi US, Bridgewater, NJ) in the ED and admitted to the pediatric intensive care unit. Complete thrombophilia work-up was negative. The patient was discharged with Lovenox and was transitioned to warfarin. CONCLUSIONS: Emergency Physicians may be inclined to discharge a pediatric patient at low pre-test probability for PE with outpatient follow-up if the work-up is non-contributory. But the current adult PE clinical criteria are not as sensitive or specific in the pediatric population. This case demonstrates that the clinician's gestalt should play a major role in combination with the Wells score and PERC (pulmonary embolism rule-out criteria) rule to exclude PE until clinical decision rules specific for the pediatric population are established.Journal of Emergency Medicine 01/2013; · 1.18 Impact Factor
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ABSTRACT: Multiple arterial and venous thromboses are usually related to thrombophilia or antiphospholipid syndrome. Recurrent pulmonary embolism strongly indicates the presence of genetic or acquired thrombophilic factors. Simultaneous double arterial in situ thromboses are unusual, even in thrombophilic conditions. Simultaneous occurrence of pulmonary embolism and cerebrovascular ischaemic insult are highly indicative of existence of patent foramen ovale. We present herein a patient with the double simultaneous arterial thromboses as the manifestation of thrombophilia (heterozygous for methylenetetrahydrofolate-reductase (MTHFR) C677T gene mutation). There was no patent foramen ovale suspected upon the patient’s admittance to hospital. To the best of our knowledge there have been no similar cases presented to date.Central European Journal of Medicine 02/2011; 7(1). · 0.21 Impact Factor