Parma Matteo, Belotti Daniela, Marinoni Sara, Pogliani Enrico Maria
Haematology Division San Gerardo Hospital, Università di Milano-Bicocca Monza, Italy.
Clin Appl Thromb Hemost. 2003 Oct;9(4):347-8. doi: 10.1177/107602960300900412.
Congenital absence of the inferior vena cava (AIVC) has been reported as a risk factor of deep vein thrombosis (DVT) in young people. DVT is caused by an interaction between congenital coagulation abnormalities and acquired risk factors. We observed an 18-year-old patient with AIVC who developed recurrent deep vein thrombosis at the left leg. Molecular studies showed an etherozigousity for FV Leiden gene (G1691A) and a homozigousity for methylenetetraidrofolate reductase gene (C677T) in absence of folate and vitamin B12 deficiency. After the second DVT episode, the patient has been treated with heparin and oral anticoagulant without discontinuation.
先天性下腔静脉缺如（AIVC）已被报道为年轻人深静脉血栓形成（DVT）的一个危险因素。DVT是由先天性凝血异常与后天获得性危险因素之间的相互作用引起的。我们观察到一名患有AIVC的18岁患者，其左腿反复发生深静脉血栓形成。分子研究显示，在缺乏叶酸和维生素B12缺乏的情况下，存在FV Leiden基因（G1691A）杂合性和亚甲基四氢叶酸还原酶基因（C677T）纯合性。在第二次DVT发作后，该患者一直接受肝素和口服抗凝剂治疗，未停药。
