Venous Thromboembolism in a Young Girl with Duplication of the Inferior Vena Cava and Protein S Deficiency

Liao, Wei‐Li; Shih, Ming-Yang; Wang, Jiaan-der

doi:10.4274/tjh.galenos.2019.2018.0332

Cited by 2 publications

(2 citation statements)

References 7 publications

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“…This malformation is totally or partially compensated by collateral circulation (azygos continuation) or even by additional countervailing malformations (such as double IVC in the case of iliac vein atresia). The identification of isolated cases with thrombophilias and agenesis of IVC, protein C deficiency, 31 protein S deficiency, 32 and other antithrombin deficiencies, 10,33 supports the association found in this study and encourages the search for congenital thrombophilia in cases with IVC atresia.…”

Section: Discussionsupporting

confidence: 85%

High penetrance of inferior vena cava system atresia in severe thrombophilia caused by homozygous antithrombin Budapest 3 variant: Description of a new syndrome

et al. 2021

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Atresia of inferior vena cava (IVC) is a rare congenital malformation associated with high risk of venous thrombosis that still has unknown etiology, although intrauterine IVC thrombosis has been suggested to be involved. The identification of IVC atresia in a case with early idiopathic venous thrombosis and antithrombin deficiency caused by the homozygous SERPINC1 c.391C > T variant (p.Leu131Phe; antithrombin Budapest 3) encouraged us to evaluate the role of this severe thrombophilia in this vascular abnormality. We have done a cross‐sectional study in previously identified cohorts of patients homozygous for the Budapest 3 variant (N = 61) selected from 1118 patients with congenital antithrombin deficiency identified in two different populations: Spain (N = 692) and Hungary (N = 426). Image analysis included computed tomography and phlebography. Atresia of the IVC system was observed in 17/24 cases (70.8%, 95% confidence interval [CI]: 48.9%–87.3%) homozygous for antithrombin Budapest 3 with available computed tomography (5/8 and 12/16 in the Spanish and Hungarian cohorts, respectively), 16 had an absence of infrarenal IVC and one had atresia of the left common iliac vein. All cases with vascular defects had compensatory mechanisms, azygos‐hemiazygos continuation or double IVC, and seven also had other congenital anomalies. Short tandem repeat analysis supported the specific association of the IVC system atresia with SERPINC1. We show the first evidence of the association of a severe thrombophilia with IVC system atresia, supporting the possibility that a thrombosis in the developing fetal vessels is the reason for this anomaly. Our hypothesis‐generating results encourage further studies to investigate severe thrombophilic states in patients with atresia of IVC.

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Section: Discussionsupporting

confidence: 85%

High penetrance of inferior vena cava system atresia in severe thrombophilia caused by homozygous antithrombin Budapest 3 variant: Description of a new syndrome

et al. 2021

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“…Hypercoagulability could result from a decrease in protein S or C activity. In rare cases, venous thrombosis can occur due to the combined effects of IVC duplication and decreased protein S [ 5 ] or protein C [ 6 ] activity.…”

Section: Introductionmentioning

confidence: 99%

Venous Thrombosis Due to Duplication of the Inferior Vena Cava with Decreased Protein C Activity: A Case Report

Okada¹,

Kenzaka

2023

Medicina

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Introduction: Duplication of the inferior vena cava (IVC) is a congenital venous malformation that occurs in 0.2%–3% of the population as a result of persistent left and right supracardinal veins. The IVC duplication is prone to deep vein thrombosis due to endothelial dysfunction and associated venous stasis. This is a rare case of recurrent venous thrombosis due to IVC duplication and decreased protein C activity. Case: A 57-year-old male presented with swelling of the left lower limb that gradually developed over a one-week period preceding his visit. He reported a history of superior mesenteric vein thrombosis, approximately three years ago, for which he received anticoagulation therapy for three months. Thoracoabdominal contrast-enhanced computed tomography (CT) revealed thrombi in the locations of the bilateral main pulmonary arteries, IVC duplication, left common iliac vein, left IVC, and left renal vein. Blood work confirmed protein C activity of 21% (baseline 64%–146%), that could have contributed to the recurrent IVC thrombosis and formation of pulmonary artery thrombus. Subsequently, the patient was hospitalized and started on anticoagulation therapy. The swelling in the left lower extremity gradually improved, and the patient was instructed to continue anticoagulation therapy permanently. Conclusion: When investigating venous thrombosis of unknown or recurrent origin, it is necessary to include venous malformations and abnormal activity of blood coagulation factors in differential diagnosis.

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Venous Thromboembolism in a Young Girl with Duplication of the Inferior Vena Cava and Protein S Deficiency

Cited by 2 publications

References 7 publications

High penetrance of inferior vena cava system atresia in severe thrombophilia caused by homozygous antithrombin Budapest 3 variant: Description of a new syndrome

High penetrance of inferior vena cava system atresia in severe thrombophilia caused by homozygous antithrombin Budapest 3 variant: Description of a new syndrome

Venous Thrombosis Due to Duplication of the Inferior Vena Cava with Decreased Protein C Activity: A Case Report

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