title: Deep venous thrombosis caused by congenital absence of inferior vena cava, combined with hyperhomocysteinemia.
abstract: We present a case of suprarenal and infrarenal absence of the inferior vena cava, combined with hyperhomocysteinemia in a 39-year-old woman who presented with symptoms of deep venous thrombosis. The patient also had a homozygous mutation of C677T methylenetetrahydrofolate reductase. Deep vein thrombosis has a multifactorial etiology involving both genetic and acquired factors. Absence of the inferior vena cava is a rare congenital anomaly, but recently it was confirmed as an important risk factor for the development of deep vein thrombosis, especially in young persons. Hypercoagulability due to hyperhomocysteinemia with a tendency toward venous stasis, mediated by congenital absence of the inferior vena cava is thought to have caused deep vein thrombosis in our patient. To our knowledge, this association has not yet been reported. The clinical features and prognosis of the entity are discussed.
authors.affiliation: Department of Surgery, College of Medicine, The Catholic University OF Korea, Seoul.
authors.forename: Sang Seob
authors.initials: SS
authors.lastname: Yun
authors.forename: Ji Il
authors.initials: JI
authors.lastname: Kim
authors.forename: Kee Hwan
authors.initials: KH
authors.lastname: Kim
authors.forename: Gi Young
authors.initials: GY
authors.lastname: Sung
authors.forename: Do Sang
authors.initials: DS
authors.lastname: Lee
authors.forename: Jeong Soo
authors.initials: JS
authors.lastname: Kim
authors.forename: In Sung
authors.initials: IS
authors.lastname: Moon
authors.forename: Keun Woo
authors.initials: KW
authors.lastname: Lim
authors.forename: Young Bok
authors.initials: YB
authors.lastname: Koh
mesh_terms: D000328:Adult; D000925:Anticoagulants / Q000627:therapeutic use; D018376:Cardiovascular Abnormalities / Q000150:complications*; D005260:Female; D006801:Humans; D020138:Hyperhomocysteinemia / Q000150:complications* / Q000235:genetics; D018810:Magnetic Resonance Angiography; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D009154:Mutation; D014682:Vena Cava, Inferior / Q000002:abnormalities*; D020246:Venous Thrombosis / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*
chemical_list: D000925:Anticoagulants; D042965:Methylenetetrahydrofolate Reductase (NADPH2)