Báo cáo y học: " Concomitant homozygosity for the prothrombin gene variant with mild deficiency of antithrombin III in a patient with multiple hepatic infarctions: a case report"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài:Concomitant homozygosity for the prothrombin gene variant with mild deficiency of antithrombin III in a patient with multiple hepatic infarctions: a case report | Emmanuelle et al. Journal of Medical Case Reports 2010 4 122 http content 4 1 122 Ws CASE REPORTS CASE REPORT Open Access Co ncomitant homozygosity for the prothrombin gene variant with mild deficiency of antithrombin III in a patient with multiple hepatic infarctions a case report Theodore Emmanuelle 1 Belkys Husein1 Javaid Iqbal 1 M Macheta2 and Peter Isaacs1 Abstract Introduction Hereditary causes of visceral thrombosis or thrombosis should be sought among young patients. We present a case of a young man presenting with multiple hepatic infarctions resulting in portal hypertension due to homozygosity of the prothrombin gene mutation not previously described in literature. Case presentation A 42-year-old Caucasian man with a previous history of idiopathic deep vein thrombosis 11 years earlier presented with vague abdominal pains and mildly abnormal liver function tests. An ultrasound and computed tomography scan showed evidence of hepatic infarction and portal hypertension splenic varices . A thrombophilia screen confirmed a homozygous mutation for the prothrombin gene mutation with mildly reduced levels of antithrombin III AT III . Subsequent testing of his father and brother revealed heterozygosity for the same gene mutation. Conclusion Hepatic infarction is unusual due to the rich dual arterial and venous blood supply to the liver. In the absence of an arterial or haemodynamic insult causing hepatic infarction a thrombophilia should be considered. To our knowledge this is the first reported case of a hepatic infarction due to homozygosity of the prothrombin gene mutation. It is unclear whether homozygotes have a higher risk of thrombosis than heterozygotes. In someone presenting with a first thrombosis with this mutation the case for life-long anticoagulation is unclear but it may be necessary to prevent a second and more severe second thrombotic event as occurred in this case. Introduction Thrombophilia is an .

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