Thrombotic Thrombocytopenic Purpura with Severe ADAMTS-13 Deficiency in a Patient with Antiphospholipid Antibodies and Charcot-Marie-Tooth Disease

Mayu Kosaka; Naoto Takahashi; Hirobumi Saitoh; Rie Masai; Mitsugu Ito; Ryuta Sato; Hideki Wakui; Kenichi Sawada

doi:10.2169/internalmedicine.50.4300

CASE REPORTS

Thrombotic Thrombocytopenic Purpura with Severe ADAMTS-13 Deficiency in a Patient with Antiphospholipid Antibodies and Charcot-Marie-Tooth Disease

Mayu Kosaka, Naoto Takahashi, Hirobumi Saitoh, Rie Masai, Mitsugu Ito, Ryuta Sato, Hideki Wakui, Kenichi Sawada

Author information

Mayu Kosaka
Department of Hematology, Nephrology, and Rheumatology, Akita University Graduate School of Medicine, Japan
Naoto Takahashi
Department of Hematology, Nephrology, and Rheumatology, Akita University Graduate School of Medicine, Japan
Hirobumi Saitoh
Department of Hematology, Nephrology, and Rheumatology, Akita University Graduate School of Medicine, Japan
Rie Masai
Department of Hematology, Nephrology, and Rheumatology, Akita University Graduate School of Medicine, Japan
Mitsugu Ito
Department of Hematology, Nephrology, and Rheumatology, Akita University Graduate School of Medicine, Japan
Ryuta Sato
Department of Hematology, Nephrology, and Rheumatology, Akita University Graduate School of Medicine, Japan
Hideki Wakui
Department of Hematology, Nephrology, and Rheumatology, Akita University Graduate School of Medicine, Japan
Kenichi Sawada
Department of Hematology, Nephrology, and Rheumatology, Akita University Graduate School of Medicine, Japan

Keywords: ADAMTS-13, thrombotic thrombocytopenic purpura (TTP), antiphospholipid antibodies (aPL), Charcot-Marie-Tooth disease (CMT) (4/6 keywords)

JOURNAL OPEN ACCESS

2011 Volume 50 Issue 5 Pages 487-493

DOI https://doi.org/10.2169/internalmedicine.50.4300

Details

Abstract

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.

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