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Congenital ADAMTS13 Deficiency: A Rare Mimicker of Immune Thrombocytopenic Purpura

Quintero, Victor MD, PhD; Garcia-Pose, Araceli MD; Barrios-Tascon, Ana MD; Pacheco-Cumani, Monica MD

Journal of Pediatric Hematology/Oncology: November 2014 - Volume 36 - Issue 8 - p 653–655
doi: 10.1097/MPH.0000000000000180
Clinical and Laboratory Observations

Congenital ADAMTS13 deficiency is a rare disease that leads to recurrent episodes of thrombotic thrombocytopenic purpura. We report a case that mimicked a recurring immune thrombocytopenic purpura in a child. Mild cases of ADAMTS13 deficiency may be initially confused with immune thrombocytopenic purpura if hemolytic anemia is not severe and renal or neurological symptoms are not present. Fresh frozen plasma is the treatment of choice in acute thrombotic thrombocytopenic purpura in ADAMTS13-deficient patients. The best long-term treatment for slightly symptomatic cases remains to be elucidated. Recombinant human ADAMTS13 factor will be a promising option when commercially available.

Servicio de Pediatría, Hospital Universitario Infanta Sofia, San Sebastian de los Reyes, Madrid, Spain

Present address: Department of Haematology, BIrmingham Children's Hospital, Steelhouse lane, Birmingham B4 6NH, UK.

The authors declare no conflict of interest.

Reprints: Victor Quintero, MD, PhD, Haematology Department, Birmingham Children's Hospital, Steelhouse lane, Birmingham B4 6NH, UK (e-mails: or

Received June 11, 2013

Accepted April 29, 2014

© 2014 by Lippincott Williams & Wilkins.