CMT disease and Thrombotic Thrombocytopenic Purppura with Severe ADAMTS-13 Defic

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Intern Med. 2011;50(5):487-93. Epub 2011 Mar 1.

Thrombotic Thrombocytopenic Purpura with Severe ADAMTS-13 Deficiency in a

Patient with Antiphospholipid Antibodies and Charcot-Marie-Tooth Disease.

Kosaka M, Takahashi N, Saitoh H, Masai R, Ito M, Sato R, Wakui H, Sawada K.

Department of Hematology, Nephrology, and Rheumatology, Akita University

Graduate School of Medicine, Japan.

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.