Deep venous thrombosis caused by congenital absence of inferior vena cava, combined with hyperhomocysteinemia.
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.
Yun
Sang Seob
SS
Department of Surgery, College of Medicine, The Catholic University OF Korea, Seoul.
Kim
Ji Il
JI
Kim
Kee Hwan
KH
Sung
Gi Young
GY
Lee
Do Sang
DS
Kim
Jeong Soo
JS
Moon
In Sung
IS
Lim
Keun Woo
KW
Koh
Young Bok
YB
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*
D000925:Anticoagulants; D042965:Methylenetetrahydrofolate Reductase (NADPH2)