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首页> 外文期刊>European Journal of Case Reports in Internal Medicine >Hypofibrinogenaemia: A Case of Spontaneous Bleeding and Central Venous Thrombosis in the Same Lifetime
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Hypofibrinogenaemia: A Case of Spontaneous Bleeding and Central Venous Thrombosis in the Same Lifetime

机译:低纤维蛋白原性贫血:一生中自发性出血和中央静脉血栓形成的一例

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The authors present the case of a 27-year-old patient who suffered from spontaneous bleeding during infancy and from a severe and central venous thrombosis in adult years. The patient underwent a thorough laboratory work-up on both occasions and was diagnosed with hypofibrinogenaemia as well as protein S deficiency, 2 diseases that contrast in their intrinsic bleeding/thrombotic risk. The patient′s high-risk pregnancy was carried out up to a successful full-term eutocic delivery which required fibrinogen concentrate to reduce life-threatening bleeding. The patient′s child was also diagnosed with hypofibrinogenaemia, later on confirmed with the pathogenic mutation Fibrinogen Marseilles II. This case was used to conduct a literature review of congenital fibrinogen disorders, rare entities that require more awareness for early diagnosis and accurate management.
机译:作者介绍了一名27岁患者的情况,该患者在婴儿期自发性出血,成年后出现严重的中央静脉血栓形成。两次都对该患者进行了彻底的实验室检查,并被诊断出血纤维蛋白原性贫血和蛋白S缺乏症,这两种疾病的内在出血/血栓形成风险相反。患者的高危妊娠一直进行到成功的足月自分泌分娩为止,这需要浓缩纤维蛋白原以减少危及生命的出血。该患者的孩子也被诊断出血纤维蛋白原性贫血,后来被确认为致病性突变纤维蛋白原马赛二世。该病例用于对先天性纤维蛋白原疾病进行文献复习,先天性纤维蛋白原疾病是罕见的实体,需要更多的意识来进行早期诊断和准确管理。

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