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首页> 外文期刊>Journal of Medical Case Reports >Inherited thrombotic thrombocytopenic purpura mimicking immune thrombocytopenic purpura during pregnancy: a case report
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Inherited thrombotic thrombocytopenic purpura mimicking immune thrombocytopenic purpura during pregnancy: a case report

机译：妊娠期模仿免疫性血小板减少性紫癜的遗传性血栓性血小板减少性紫癜：一例报告

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BackgroundThrombotic thrombocytopenic purpura is a very rare hereditary blood deficiency disorder of ADAMTS13 (von Willebrand factor-cleaving protease) and a life-threatening thrombotic microangiopathy characterized by thrombocytopenia and microangiopathic hemolytic anemia. The deficiency in ADAMTS13 metalloprotease, which cleaves the von Willebrand factor, may be congenital or acquired. The congenital form is caused by inherited mutations in the ADAMTS13 gene. The diagnosis is challenging due to the nonspecific signs and symptoms, as well as the rarity of the disease. Case presentationWe present an unusual case of a 20-year-old feoderm woman from northeast region of Brazil who manifested thrombocytopenia during her pregnancy which was believed to be immune thrombocytopenic purpura. ConclusionsConsidering the importance of a differential diagnosis of thrombotic microangiopathic disorders, congenital thrombotic thrombocytopenic purpura may mimic the signs and symptoms of pre-eclampsia/eclampsia, hemolysis with elevated liver enzymes and low platelet count syndrome, and atypical hemolytic-uremic syndrome. It should be considered in suspect cases in patients with an ADAMTS13 activity at 5% without ADAMTS13 antibodies.
机译：背景血栓性血小板减少性紫癜是一种非常罕见的ADAMTS13（von Willebrand因子裂解蛋白酶）遗传性血液缺乏症，是一种以血小板减少和微血管性溶血性贫血为特征的危及生命的血栓性微血管病。切割von Willebrand因子的ADAMTS13金属蛋白酶的缺陷可能是先天性的或后天性的。先天形式是由ADAMTS13基因的遗传突变引起的。由于非特异性的体征和症状以及该疾病的罕见性，诊断具有挑战性。病例介绍我们介绍了一个不寻常的病例，该病例来自巴西东北部地区的一名20岁女性十二指肠妇女在怀孕期间出现血小板减少症，据认为是免疫性血小板减少性紫癜。结论考虑到对血栓性微血管疾病的鉴别诊断的重要性，先天性血栓性血小板减少性紫癜可模仿先兆子痫/子痫的症状和体征，肝酶升高和血小板计数低综合征的溶血以及非典型溶血尿毒症综合征。如果ADAMTS13活性为5％，而没有ADAMTS13抗体，则在可疑病例中应考虑使用。

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