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Phlegmasia cerulea dolens complicated by methylenetetrahydrofolate reductase genetic mutation

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Introduction: Deep venous thrombosis (DVT) is the formation of a blood clot within a deep vein. Phlegmasia cerulea dolens (PCD) represents a critical acute consequence of DVT. The PCD is a condition caused by massive iliofemoral thrombosis that produces severe venous congestion and obstruction of arterial flow; eventually, causing ischemia in the affected extremity. The treatment goals of PCD are to restore venous outflow by removing thrombus burden, prevent additional thrombus formation, and maintain collateral circulation. However, no therapeutic algorithms exist for PCD. Case Report: We report PCD in a 55-year-old male with a significant past medical history for multiple venous thromboembolisms, requiring placement of an inferior vena cava filter and lifetime anticoagulation. Clinical presentation and accompanying venous duplex results led to the diagnosis of PCD. The 9th American College of Chest Physicians Consensus Conference on Antithrombotic and Thrombolytic Therapy created guidelines for treatment of acute DVT in the absence of gangrene. Guidelines advise to withhold thrombolysis and percutaneous or surgical procedure until treatment with therapeutic heparin anticoagulation proves to be inadequate. Conservative treatment with therapeutic anticoagulation was unsuccessful. therefore, catheter directed thrombolytic therapy, venoplasty, and stent placement were implemented. Conclusion: Due to possible associated morbidity and mortality, it is recommended to implement therapy soon after diagnosis of PCD. It is hoped that this report will provide guidance in management and assist to develop an evidence-based treatment algorithm for PCD.

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