Internal medicine (Tokyo, Japan) · 2011
Thrombotic thrombocytopenic purpura with severe ADAMTS-13 deficiency in a patient with antiphospholipid antibodies and Charcot-Marie-Tooth disease.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Kosaka Mayu, Takahashi Naoto, Saitoh Hirobumi, Masai Rie, Ito Mitsugu, Sato Ryuta, Wakui Hideki, Sawada Kenichi
Аннотация
A 26-year-old woman with a history of mild mental retardation, Charcot-Marie-Tooth disease (CMT) and idiopathic thrombocytopenic purpura developed severe thrombocytopenia with Coombs-negative hemolytic anemia. Magnetic resonance imaging revealed a fresh cerebral infarction in the left precentral gyrus. ADAMTS-13 deficiency caused by an inhibitor and anti-cardiolipin antibodies were detected in the blood. After treatment with prednisolone and fresh frozen plasma, ADAMTS-13 activity was normalized, the ADAMTS-13 inhibitor had disappeared and the thrombocytopenia with a bleeding tendency was improved. To our knowledge, this is the first case of thrombotic thrombocytopenic purpura caused by ADAMTS-13 deficiency associated with antiphospholipid antibodies and CMT.