Hyperhomocysteinemia-induced upper extremity deep vein thrombosis and pulmonary embolism in a patient with methyltetrahydrofolate reductase mutation: a case report and literature review
| Autor: | Lili Sun, Bangaruraju Kolanuvada, Lin Gao, Richard L. Petrillo, Min Zhao, Geetha Naik, Yingzhong Zhang, Dariush Alaie |
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| Rok vydání: | 2015 |
| Předmět: |
Male
medicine.medical_specialty Hyperhomocysteinemia Deep vein 030204 cardiovascular system & hematology Chest pain 03 medical and health sciences 0302 clinical medicine Superior vena cava Jugular vein Upper Extremity Deep Vein Thrombosis Medicine Humans 030212 general & internal medicine Methylenetetrahydrofolate Reductase (NADPH2) biology business.industry Homozygote Anticoagulants Hematology General Medicine Heparin Low-Molecular-Weight Middle Aged medicine.disease Thrombosis Surgery Pulmonary embolism medicine.anatomical_structure Psychotic Disorders Muscle Spasticity Methylenetetrahydrofolate reductase Mutation cardiovascular system biology.protein Homocystinuria medicine.symptom business Pulmonary Embolism |
| Zdroj: | Blood coagulationfibrinolysis : an international journal in haemostasis and thrombosis. 27(6) |
| ISSN: | 1473-5733 |
| Popis: | The study highlights pulmonary embolism and deep vein thrombosis by methylene tetrahydrofolate reductase (MTHFR) deficiency-related hyperhomocysteinemia occurring in rare locations of left veins superior to the heart extensively. A 59-year-old white man with history of leg pain, smoking, weight loss, benign prostatic hyperplasia, lipoma and panic attack presented with shortness of breath and chest pain for 2 days precipitated by not feeling well for months. The diagnostic workup revealed pulmonary embolism and deep vein thrombosis in the left subclavian vein which extended throughout the left brachiocephalic vein to the superior vena cava and left jugular vein. Further workup showed moderate hyperhomocysteinemia with normal levels of vitamin B6, B12 and folic acid. Methylene tetrahydrofolate reductase genetic study found the patient to be homozygous for G677T variant. He was started on low-molecular-weight heparin and was discharged on oral anticoagulant. No recurrent thrombotic episodes were witnessed after 4 months of follow-up after discharge. |
| Databáze: | OpenAIRE |
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