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CASE REPORT
Year : 2017  |  Volume : 4  |  Issue : 3  |  Page : 173-176

Hereditary thrombophilia (rare multiple genetic defects combination) caused portal vein thrombosis complicated by hypersplenism and pancytopenia


1 Department of Critical Care, Faculty of Medicine, Cairo University, Cairo, Egypt
2 Department of Internal Medicine, Faculty of Medicine, Cairo University, Cairo, Egypt
3 Department of Clinical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt

Correspondence Address:
Nora I Abbas
Critical Care Department, Faculty of Medicine; Cairo University, Al-Saray Street, El Manial Cairo 11956
Egypt
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/roaic.roaic_85_16

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Venous thrombosis is the third-ranking cardiovascular disease following only coronary heart disease and stroke [1]. Venous thrombosis has an overall yearly incidence of less than 1 in 1000 [2]. A middle-aged female patient without relevant medical history was admitted with syncope and pancytopenia to the critical care unit of Cairo University hospitals. Viral profile and renal and hepatic functions were normal, as well as bone marrow aspirate. Abdominal ultrasound followed by computed tomography of the abdomen showed moderate splenomegaly with no focal splenic lesions for clinical laboratory correlation and portal hypertension with portal vein cavernoma (mostly an organized old thrombosis during pregnancy) for color Doppler evaluation, which confirmed the diagnosis. Thrombophilia screening showed rare multiple thrombophilic genetic defects.


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