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Deep venous thrombosis caused by inferior vena cava atresia and hereditary thrombophilia. 2009

Shelonitda S Rose, and Yaqoob Ali, and Amit Kumar, and Teri Jo Bekos, and Parvin Saidi
Division of Hematology, UMDNJ-Robert Wood Johnson Medical School, New Brunswick, New Jersey 08903, USA. rosesh@umdnj.edu

Inferior vena cava (IVC) atresia is a risk factor for deep vein thrombosis (DVT) in young patients. Although Doppler ultrasound diagnoses DVT, a contrast-enhanced computerized tomography (CT) or magnetic resonance angiography (MRA) diagnoses IVC atresia, other congenital IVC anomalies and must be considered in young patients presenting with idiopathic DVT. Patients with IVC atresia associated with hereditary thrombophilia are at increased risk for recurrent DVT and may require long-term anticoagulation. We report 2 cases: the first one, a 33-year-old man with lower extremity DVT caused by IVC atresia in association with multiple thrombophilic risk factors; the second one, a 34-year-old woman with lower extremity DVT caused by IVC atresia in association with prothrombin gene mutation. To our knowledge, this association has not been reported. The clinical presentation, tools for diagnosis, and the need for long-term anticoagulation are discussed.

UI MeSH Term Description Entries
D008297 Male Males
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D011516 Prothrombin A plasma protein that is the inactive precursor of thrombin. It is converted to thrombin by a prothrombin activator complex consisting of factor Xa, factor V, phospholipid, and calcium ions. Deficiency of prothrombin leads to hypoprothrombinemia. Coagulation Factor II,Factor II,Blood Coagulation Factor II,Differentiation Reversal Factor,Factor II, Coagulation,Factor, Differentiation Reversal,II, Coagulation Factor
D005165 Factor V Heat- and storage-labile plasma glycoprotein which accelerates the conversion of prothrombin to thrombin in blood coagulation. Factor V accomplishes this by forming a complex with factor Xa, phospholipid, and calcium (prothrombinase complex). Deficiency of factor V leads to Owren's disease. Coagulation Factor V,Proaccelerin,AC Globulin,Blood Coagulation Factor V,Factor 5,Factor Five,Factor Pi,Factor V, Coagulation
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D012307 Risk Factors An aspect of personal behavior or lifestyle, environmental exposure, inborn or inherited characteristic, which, based on epidemiological evidence, is known to be associated with a health-related condition considered important to prevent. Health Correlates,Risk Factor Scores,Risk Scores,Social Risk Factors,Population at Risk,Populations at Risk,Correlates, Health,Factor, Risk,Factor, Social Risk,Factors, Social Risk,Risk Factor,Risk Factor Score,Risk Factor, Social,Risk Factors, Social,Risk Score,Score, Risk,Score, Risk Factor,Social Risk Factor
D014682 Vena Cava, Inferior The venous trunk which receives blood from the lower extremities and from the pelvic and abdominal organs. Inferior Vena Cava,Inferior Vena Cavas,Vena Cavas, Inferior
D019851 Thrombophilia A disorder of HEMOSTASIS in which there is a tendency for the occurrence of THROMBOSIS. Hypercoagulability,Hypercoagulabilities,Thrombophilias

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