Congenital thrombotic thrombocytopenic purpura diagnosed in adulthood after repeated thrombocytopenia since neonatal period

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  • 新生児期より血小板減少を反復し成人になって診断された先天性血栓性血小板減少性紫斑病
  • シンセイジキ ヨリ ケッショウバン ゲンショウ オ ハンプク シ セイジン ニ ナッテ シンダン サレタ センテンセイ ケッセンセイ ケッショウバン ゲンショウセイ シハンビョウ

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<p>A 27-year-old woman was diagnosed with idiopathic thrombocytopenic purpura in the neonatal period, and was admitted to our hospital after presenting with impaired consciousness, purpura, nausea and vomiting, with a platelet count of 10×109/l. Congenital thrombotic thrombocytopenic purpura (cTTP) was suspected on the basis of recurrent thrombocytopenia and impaired consciousness, so tests for ADAMTS13 activity and inhibitor were performed. ADAMTS13 activity was severely decreased, ADAMTS13 inhibitor was negative, and platelet count increased after transfusion of fresh frozen plasma. These findings and the results of genetic testing done on all family members led to a diagnosis of cTTP. cTTP requires differential diagnosis even in adults. If a patient diagnosed with ITP in childhood has a history or findings that suggest cTTP during follow-up observation, it is necessary to actively consider ADAMTS13 testing.</p>

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  • Rinsho Ketsueki

    Rinsho Ketsueki 65 (3), 142-146, 2024

    The Japanese Society of Hematology

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