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

Teruhiko Yoshino, Takuro Kuriyama, Sae Utsumi, Takashi Shimakawa, Mariko Minami, Masayasu Hayashi, Yayoi Matsuo, Koichi Kokame, Eriko Nakamura, Masanori Matsumoto, Tetsuya Eto, Shuichi Taniguchi
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Abstract

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.

[先天性血栓性血小板减少性紫癜,自新生儿期起反复血小板减少,成年后确诊]。
一名 27 岁的女性在新生儿期被诊断为特发性血小板减少性紫癜,因出现意识障碍、紫癜、恶心和呕吐,血小板计数为 10×109/l 而住进我院。根据反复出现的血小板减少和意识障碍,怀疑是先天性血栓性血小板减少性紫癜(cTTP),因此进行了 ADAMTS13 活性和抑制剂检测。ADAMTS13 活性严重下降,ADAMTS13 抑制剂阴性,输注新鲜冰冻血浆后血小板计数增加。这些发现以及对所有家庭成员进行的基因检测结果导致了 cTTP 的诊断。如果儿童期被诊断为 ITP 的患者有病史或在随访观察中发现提示 cTTP,则有必要积极考虑进行 ADAMTS13 检测。
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