title: Inherited ADAMTS13 deficiency (Upshaw-Schulman syndrome): a short review.
abstract: Congenital thrombotic thrombocytopenic purpura (TTP), also known as Upshaw-Schulman syndrome, is associated with an inherited deficiency of ADAMTS13, a von Willebrand factor-cleaving protease. It is a rare, life-threatening disorder characterized by thrombocytopenia, hemolytic anemia, neurological symptoms, renal dysfunction, and fever resulting from formation of platelet thrombi within the microvasculature. Patients have initial episodes mainly during infancy or early childhood, and are conventionally treated with fresh frozen plasma. However, a more appropriate approach based on recombinant ADAMTS13 is slated to begin shortly. Mutations throughout the ADAMTS13 have been identified in congenital TTP patients. The prevalence of this entity is probably underestimated because it is often not suspected, the clinical course is usually heterogeneous and most of the symptoms are common to other diseases. The present review summarizes our current knowledge about Upshaw-Schulman syndrome.
authors.affiliation: Servicio de Hematología y Hemoterapia, Complexo Hospitalario Universitario A Coruña, A Coruña, Department of Medicine, School of Medicine, University of Santiago de Compostela, Spain.
authors.forename: Almudena
authors.initials: A
authors.lastname: Pérez-Rodríguez
authors.affiliation: Servicio de Hematología y Hemoterapia, Complexo Hospitalario Universitario A Coruña, A Coruña, Department of Medicine, School of Medicine, University of Santiago de Compostela, Spain.
authors.forename: Esther
authors.initials: E
authors.lastname: Lourés
authors.affiliation: Servicio de Hematología y Hemoterapia, Complexo Hospitalario Universitario A Coruña, A Coruña, Department of Medicine, School of Medicine, University of Santiago de Compostela, Spain.
authors.forename: Ángela
authors.initials: Á
authors.lastname: Rodríguez-Trillo
authors.affiliation: Servicio de Hematología y Hemoterapia, Complexo Hospitalario Universitario A Coruña, A Coruña, Department of Medicine, School of Medicine, University of Santiago de Compostela, Spain.
authors.forename: Joana
authors.initials: J
authors.lastname: Costa-Pinto
authors.affiliation: Centro Oncológico de Galicia, A Coruña, Spain.
authors.forename: Aránzazu
authors.initials: A
authors.lastname: García-Rivero
authors.affiliation: Servicio de Hematología y Hemoterapia, Hospital Universitario Marqués de Valdecilla, Cantabria, Spain; Departamento de Biología Molecular, Instituto de Biomedicina y Biotecnología de Cantabria (IBBTEC), Universidad de Cantabria, CSIC, SODERCAN, Santander, Spain.
authors.forename: Ana
authors.initials: A
authors.lastname: Batlle-López
authors.affiliation: Servicio de Hematología y Hemoterapia, Complexo Hospitalario Universitario A Coruña, A Coruña, Department of Medicine, School of Medicine, University of Santiago de Compostela, Spain. Electronic address: francisco.javier.batlle.fonrodona@sergas.es.
authors.forename: Javier
authors.initials: J
authors.lastname: Batlle
authors.affiliation: Servicio de Hematología y Hemoterapia, Complexo Hospitalario Universitario A Coruña, A Coruña, Department of Medicine, School of Medicine, University of Santiago de Compostela, Spain.
authors.forename: María Fernanda
authors.initials: MF
authors.lastname: López-Fernández
mesh_terms: D051722:ADAM Proteins / Q000172:deficiency* / Q000235:genetics*; D000071120:ADAMTS13 Protein; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D010949:Plasma; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011697:Purpura, Thrombotic Thrombocytopenic / Q000151:congenital* / Q000175:diagnosis* / Q000628:therapy
chemical_list: D051722:ADAM Proteins; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human
keywords: ADAMTS13; Mutation; Thrombotic thrombocytopenic purpura; Upshaw-Schulman syndrome