title: Hyperhomocysteinemia-induced upper extremity deep vein thrombosis and pulmonary embolism in a patient with methyltetrahydrofolate reductase mutation: a case report and literature review.
abstract: 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.
authors.affiliation: Department of Internal Medicine, Montefiore Mount Vernon Hospital, Mount Vernon, New York, USA.
authors.forename: Lin
authors.initials: L
authors.lastname: Gao
authors.forename: Bangaruraju
authors.initials: B
authors.lastname: Kolanuvada
authors.forename: Geetha
authors.initials: G
authors.lastname: Naik
authors.forename: Yingzhong
authors.initials: Y
authors.lastname: Zhang
authors.forename: Min
authors.initials: M
authors.lastname: Zhao
authors.forename: Lili
authors.initials: L
authors.lastname: Sun
authors.forename: Dariush
authors.initials: D
authors.lastname: Alaie
authors.forename: Richard L
authors.initials: RL
authors.lastname: Petrillo
mesh_terms: D000925:Anticoagulants / Q000627:therapeutic use; D006495:Heparin, Low-Molecular-Weight / Q000627:therapeutic use; D006712:Homocystinuria / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D006720:Homozygote; D006801:Humans; D020138:Hyperhomocysteinemia / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000097:blood / Q000172:deficiency* / Q000235:genetics*; D008875:Middle Aged; D009128:Muscle Spasticity / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D009154:Mutation; D011618:Psychotic Disorders / Q000097:blood / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy; D011655:Pulmonary Embolism / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D056824:Upper Extremity Deep Vein Thrombosis / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy
chemical_list: D000925:Anticoagulants; D006495:Heparin, Low-Molecular-Weight; D042965:Methylenetetrahydrofolate Reductase (NADPH2)