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Page 1: Antiphospholipid Syndrome ||

Antiphospholipid Syndrome

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Doruk Erkan ● Silvia S. PierangeliEditors

Antiphospholipid Syndrome

Insights and Highlights from the 13th International Congress on Antiphospholipid Antibodies

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EditorsDoruk Erkan, MDAssociate Physician-ScientistThe Barbara Volcker Center for Women and Rheumatic DiseasesandAssociate Attending PhysicianHospital for Special SurgeryandAssociate Professor of MedicineWeill Medical College of Cornell University New York, NY, USA

Silvia S. Pierangeli, PhDProfessorDepartments of Internal Medicine,Pathology, and MicrobiologyandDirectorAntiphospholipid Standardization LaboratoryUniversity of Texas Medical BranchGalveston, TX, USA

ISBN 978-1-4614-3193-0 ISBN 978-1-4614-3194-7 (eBook)DOI 10.1007/978-1-4614-3194-7Springer New York Heidelberg Dordrecht London

Library of Congress Control Number: 2012935102

© Springer Science+Business Media New York 2012This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifi cally the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfi lms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. Exempted from this legal reservation are brief excerpts in connection with reviews or scholarly analysis or material supplied specifi cally for the purpose of being entered and executed on a computer system, for exclusive use by the purchaser of the work. Duplication of this publication or parts thereof is permitted only under the provisions of the Copyright Law of the Publisher’s location, in its current version, and permission for use must always be obtained from Springer. Permissions for use may be obtained through RightsLink at the Copyright Clearance Center. Violations are liable to prosecution under the respective Copyright Law.The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specifi c statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. While the advice and information in this book are believed to be true and accurate at the date of publication, neither the authors nor the editors nor the publisher can accept any legal responsibility for any errors or omissions that may be made. The publisher makes no warranty, express or implied, with respect to the material contained herein.

Printed on acid-free paper

Springer is part of Springer Science+Business Media (www.springer.com)

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“APLA 2010”

The International Congress on Antiphospholipid Antibodies is held every 3 years to discuss the recent advances and future directions in antiphospholipid syndrome (APS). The 13th International Congress on Antiphospholipid Antibodies (APLA 2010) was hosted in Galveston, TX, USA on April 13–16, 2010. The goal of the chairperson (Dr. Silvia Pierangeli) and the meeting organizers was to make this event a truly international and multispecialty one, and to provide the attendees with the latest evidence-based science on APS. More than 40 invited speakers from dif-ferent specialties and more than 400 attendees from 28 countries came together for a very comprehensive and thorough program; the congress was accredited and sup-ported by the University of Texas Medical Branch (UTMB) as a CME event.

The three-and-half day event included state-of-the-art lectures, “meet the profes-sor” sessions tailored to the interest of junior scientists and clinicians, selected abstract oral presentations, poster sessions, a laboratory wet workshop to evaluate the perfor-mance of various diagnostic antiphospholipid antibody (aPL) tests, and preconfer-ence “consensus” workshops for the task forces to report and discuss their conclusions. These task forces that were created by the meeting organization committee to review the controversial aspects of APS in an evidence-based manner were:

Task force on “criteria” aPL tests • Task force on “non-criteria” aPL tests • Task force on obstetric APS • Task force on the management of thrombosis • Task force on clinical research • Task force on the brain involvement in APS • Task force on catastrophic APS and non-criteria aPL manifestations. •

Patients were also invited to actively participate in APLA 2010 for the fi rst time in the history of aPL congresses; we are extremely appreciative for the monetary contributions and their volunteer work. Furthermore, 3 patient–doctor forums were

Preface

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vi Preface

included in the program that were extremely well attended and provided the venue for productive as well as informative discussions between patients and clinicians.

Around the time of “APLA 2010,” Springer contacted us with the idea of editing a new book on “Antiphospholipid Syndrome.” We immediately liked the proposal but we thought the new project should be unique and different from previously published APS books. Although signifi cant progress has been made in the fi eld of APS over the last 25 years, we knew that different opinions, uncertainties, and areas of great discussion still exist. For instance, questions still remain on how aPL is acquired, what factors infl uence the production of “pathogenic aPL,” or what is the role of infl ammation in aPL-mediated clinical problems. We thought that the best way to address unknown and controversial aspects of APS would be to include chapters that address simple questions with complex answers (e.g., what is the origin of aPL) and then letting a team of scientists with different opinions answer these questions. We also decided to invite “APLA 2010” task force members to contribute to the project by presenting (and expanding as needed) their conclusions and recommendations.

The idea seemed initially almost impossible. It was critical for us to produce this book in a relatively short period so that the APLA 2010 “momentum” would not be lost, knowing that this would be an additional challenge to the authors. In order to bring the idea to fruition: (a) we determined “team leaders” for each chapter; (b) we conveyed our goals to the “team leaders” throughout the world (many actively par-ticipated at APLA 2010) and thankfully most of them accepted the challenge with enthusiasm; (c) with the guidance of “team leaders,” we invited other contributors to complete this challenging work in a professional and evidence-based manner; and (d) we decided to organize each chapter in an uniform and systematic fashion based on the following sections:

Introduction • What is known? • What is controversial and/or unknown? • Current research • Future research directions • Group conclusions •

In addition to the scientifi c discussions included in the book, we believe that three chapters deserve special attention: a historical perspective of the past 25 years of APS and the preceding 12 International Congresses on Antiphospholipid Antibodies; a future perspective on where the APS fi eld is going; and a very special chapter is dedicated to patients that describes—in lay language—what patients need to know in order to better understand APS.

Hence, after a little bit over a year, we are pleased to introduce the fi rst edition of: “ Antiphospholipid Syndrome: Insights and Highlights from the 13th International Congress on Antiphospholipid Antibodies.” Needless to say, we are extremely grate-ful to all the contributors (many of them participated in more than one chapter) and to the staff of Springer for their hard work and enthusiasm. Specifi cally, we are grateful for the organizational skills of Michael D. Sova from Springer, who managed

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viiPreface

to keep us on time and track on this project with his extraordinary organizational skills. We are also thankful to our patients for their unlimited support, enthusiasm, and encouragement to go on with our research and clinical work.

Finally, we do hope that this book will be useful to clinicians who are involved in managing APS patients that can be challenging in many ways, to trainees in various subspecialties of the medical sciences, and to researchers who are intrigued—as much as we are—on a better understanding of this complex and evolving disease. We also hope that our book will guide the researchers and “APLA 2010” task forces; we aim to publish the updated second edition of this book following the next International Congress on aPL, which will be held in Rio de Janeiro, Brazil in 2013.

New York, NY, USA Doruk ErkanGalveston, TX, USA Silvia S. Pierangeli

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Part I History of Antiphospholipid Syndrome

1 Overview of the Last 25 Years and 13 International Congresses on Antiphospholipid Antibodies .......................................... 3Eon Nigel Harris and Silvia S. Pierangeli

Part II Basic Science Aspects of Antiphospholipid Syndrome

2 What is the Origin of Antiphospholipid Antibodies? ............................ 23Rohan Willis, Yehuda Shoenfeld, Silvia S. Pierangeli, and Miri Blank

3 What is the Genetics of Antiphospholipid Antibodies/Syndrome? ............................................................................. 41Thomas L. Ortel, Pier Luigi Meroni, Marta E. Alarcón-Riquelme, Maria O. Borghi, and Joan T. Merrill

4 What is the Mechanism(s) of Antiphospholipid Antibody-Mediated Thrombosis? ............................................................ 57Rohan Willis, Ian P. Giles, Pojen P. Chen, Chary López-Pedrera, María José Cuadrado, and Silvia S. Pierangeli

5 What is the Mechanism(s) of Antiphospholipid Antibody-Mediated Pregnancy Morbidity? ........................................... 79Vikki M. Abrahams, Maria O. Borghi, Pier Luigi Meroni, Jacob H. Rand, Elena Raschi, Jane E. Salmon, Francesco Tedesco, and Angela Tincani

Contents

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6 What are the Target Cells and Receptors that are Recognized by Antiphospholipid Antibodies? .......................................................... 103Philip G. de Groot, Elena Raschi, Keith R. McCrae, Silvia S. Pierangeli, Panayiotis G. Vlachoyiannopoulos, and Rolf T. Urbanus

Part III 13th International Congress on Antiphospholipid Antibodies Task Force Reports

7 Task Force Report on “Criteria” Antiphospholipid Antibody Tests ......................................................................................... 117Robert A.S. Roubey and Silvia S. Pierangeli

8 Task Force Report on “Non-criteria” Antiphospholipid Antibody Tests ......................................................................................... 133Maria Laura Bertolaccini, Olga Amengual, Tatsuya Atsumi, Walter L. Binder, William H. Kutteh, Bas de Laat, Ricardo Forastiero, Marc Lambert, Hidehiko Matsubayashi, Vijaya L. Murthy, Michelle Petri, Jacob H. Rand, Marielle Sanmarco, Anne E. Tebo, and Silvia S. Pierangeli

9 Task Force Report on Obstetric Antiphospholipid Syndrome ........... 147D. Ware Branch, Benjamin Leader, and Carl A. Laskin

10 Task Force Report on Brain Involvement in Antiphospholipid Syndrome ................................................................................................. 159Joab Chapman, Eyal Muscal, and Robin L. Brey

11 Task Force Report on the Management of Thrombosis in Antiphospholipid Syndrome .............................................................. 167Guillermo Ruiz-Irastorza, Vittorio Pengo, Maria G. Tektonidou, Ioana Ruiz-Arruza, María José Cuadrado, and Munther A. Khamashta

12 Task Force Report on Catastrophic Antiphospholipid Syndrome ................................................................................................. 181Gerard Espinosa, Horacio Berman, Doruk Erkan, and Ricard Cervera

13 Task Force Report on Non-criteria Manifestations: Thrombocytopenia .................................................................................. 195Gabriela Hernández-Molina, Xavier López-Karpovitch, Emilio B. González, and Antonio R. Cabral

14 Task Force Report on Non-criteria Manifestations: Nephropathy ............................................................................................ 207Maria G. Tektonidou, Horacio E. Adrogué, and Smita Vaidya

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xiContents

15 Task Force Report on Non-criteria Manifestations: Cardiac Valve Disease ............................................................................. 223Gerard Espinosa, Lucía Fernández de Orueta, Elena Lluch, María Ángeles Polvorosa, Sandra Soro, and Ricard Cervera

16 Task Force Report on Non-criteria Manifestations: Skin ........................................................................................................... 235Michal Solomon, Yehuda Shoenfeld, and Gisele Zandman-Goddard

17 Task Force Report on Antiphospholipid Syndrome Clinical Research..................................................................................... 247Doruk Erkan, Silvia S. Pierangeli, and Michael D. Lockshin

Part IV Future of Antiphospholipid Syndrome

18 What are the Potential Future Treatments in Antiphospholipid Syndrome? ............................................................ 261Doruk Erkan, Anisur Rahman, Hannah Cohen, Samuel J. Machin, and Silvia S. Pierangeli

19 Remembrances of Predictions Past ....................................................... 289Michael D. Lockshin

Part V Antiphospholipid Syndrome for Patients

20 What Should Patients Know about Antiphospholipid Antibodies and Antiphospholipid Syndrome? ......................................................... 295Doruk Erkan, Lindsay Lally, and Michael D. Lockshin

Index ................................................................................................................. 311

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Vikki M. Abrahams , PhD Department of Obstetrics, Gynecology, and Reproductive Sciences , Yale University School of Medicine , New Haven , CT , USA

Horacio E. Adrogue , MD Department of Internal Medicine , The Methodist Hospital , Houston , TX , USA

Marta E. Alarcón-Riquelme , MD, PhD Department of Human DNA Variability , Centro de Genómica e Investigación Oncológica , Granada , Spain

Department of Arthritis and Clinical Immunology , Oklahoma Medical Research Foundation , Oklahoma City , Oklahoma, USA

Olga Amengual , MD, PhD Department of Medicine II , Hokkaido University Graduate School of Medicine , Sapporo , Hokkaido , Japan

Tatsuya Atsumi , MD, PhD Department of Medicine II , Hokkaido University Graduate School of Medicine , Sapporo , Hokkaido , Japan

Horacio Berman , MD, PhD Department of Autoimmune Diseases , Hospital Clínic de Barcelona , Barcelona , Spain

Maria Laura Bertolaccini , MD, PhD Division of Women’s Health, Lupus Research Unit , The Rayne Institute, St Thomas’ Hospital, King’s College London , London , UK

Walter L. Binder , PhD Department of Research and Development , INOVA Diagnostics Inc. , San Diego , CA , USA

Miri Blank , PhD Zabludowicz Center for Autoimmune Diseases , Sheba Medical Center , Ramat-Gan , Israel

Maria O. Borghi , MD Department of Internal Medicine , University of Milan, IRCCS Istituto Auxologico Italiano, Cusano Milanino , Milan , Italy

D. Ware Branch , MD Department of Obstetrics & Gynecology , University of Utah Hospital , Salt Lake City , UT , USA

Contributors

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xiv Contributors

Robin L. Brey , MD Department of Neurology , University of Texas Health Science Center , San Antonio , TX , USA

Antonio R. Cabral , MD Department of Immunology and Rheumatology , Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán , Mexico City , DF , Mexico

Ricard Cervera , MD, PhD Department of Autoimmune Diseases , Hospital Clínic de Barcelona , Barcelona , Spain

Joab Chapman , MD Department of Neurology and Sagol Center for Neuroscience , Sheba Medical Center, Tel Aviv University , Tel Aviv , Israel

Pojen P. Chen , PhD Department of Medicine , University of California Los Angeles , Los Angeles , CA , USA

Hannah Cohen , MD, FRCP Department of Haematology , University College London Hospitals, NHS Foundation Trust , London , UK

María José Cuadrado , MD, PhD Lupus Research Unit , St Thomas’ Hospital, King’s College London , London , UK

Philip G. de Groot , PhD Department of Clinical Chemistry and Haematology , University Medical Center Utrecht , Utrecht , The Netherlands

Bas de Laat , PhD Department of Biochemistry , Maastricht University Medical Center , Maastricht , Limburg , The Netherlands

Lucia Fernandez de Orueta , MD Department of Autoimmune Diseases , Hospital Clínic de Barcelona , Barcelona , Spain

Doruk Erkan , MD The Barbara Volcker Center for Women and Rheumatic Diseases , Hospital for Special Surgery, Weill Cornell Medical College of Cornell University , New York , NY , USA

Gerard Espinosa , MD, PhD Department of Autoimmune Diseases , Hospital Clínic de Barcelona , Barcelona , Spain

Ricardo Forastiero , PhD Department of Hematology , Favaloro University , Buenos Aires , Argentina

Ian P. Giles , NSc, MBBS, PhD Centre for Rheumatology Research, UCL Division of Medicine , University College London Hospital , London , UK

Emilio B. Gonzalez , MD Department of Medicine and Rheumatology , The University of Texas Medical Branch , Galveston , TX , USA

Eon Nigel Harris , MD, DM Department of Medicine , The University of the West Indies , Kingston 7 , Jamaica

Gabriela Hernández-Molina , MD Department of Immunology and Rheumatology , Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán , Mexico City , DF , Mexico

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xvContributors

Munther A. Khamashta , MD, PhD Lupus Research Unit , St Thomas’ Hospital, King’s College London , London , UK

William H. Kutteh , MD, PhD Department of Obstetrics and Gynecology , University of Tennessee Health Sciences Center , Memphis , TN , USA

Gabriella Lakos , MD, PhD Department of Research and Development , INOVA Diagnostics, Inc , San Diego , CA , USA

Lindsay Lally , MD Department of Rheumatology , Hospital for Special Surgery , New York , NY , USA

Marc Lambert , MD, PhD Department of Internal Medicine , Chru Lille , Lille , France

Carl A. Laskin , MD Department of Medicine, Obstetrics & Gynecology and Immunology , University of Toronto , Toronto , ON , Canada

Benjamin Leader , MD, PhD Department of Clinical Research , ReproSource, Inc. , Woburn , MA , USA

Elena Lluch , MD Department of Autoimmune Diseases , Hospital Clínic de Barcelona , Barcelona , Spain

Michael D. Lockshin , MD The Barbara Volcker Center for Women and Rheumatic Diseases , Hospital for Special Surgery, Weill Cornell Medical College of Cornell University , New York , NY , USA

Xavier López-Karpovitch , MD Department of Hematology and Oncology , Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán , Mexico City , DF , Mexico

Chary López-Pedrera , PhD Research Unit , Reina So fi a/IMIBIC , Cordoba , Spain

Samuel J. Machin , MB, ChB Department of Haematology , University College London Hospitals , London , UK

Hidehiko Matsubayashi , MD, PhD Department of Obstetrics and Gynecology , Osaka New ART Clinic , Osaka , Osaka-fu , Japan

Keith R. McCrae , MD Taussig Cancer Institute and Department of Cell Biology , Cleveland Clinic Lerner College of Medicine of Case Western Reserve University , Cleveland , OH , USA

Pier Luigi Meroni , MD Department of Internal Medicine , Istituto G. Pini, University of Milan , Milan , Italy

Joan T. Merrill , MD Department of Clinical Pharmacology Research , Oklahoma Medical Research Foundation , Oklahoma City , OK , USA

Vijaya L. Murthy , MBBS Department of Rheumatology , University of Texas Medical Branch , Galveston , TX , USA

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Eyal Muscal , MD, MS Sections of Rheumatology and Neurology, Department of Pediatrics , Texas Children’s Hospital , Houston , TX , USA

Thomas L. Ortel , MD, PhD Department of Medicine , Duke University Medical Center , Durham , NC , USA

Vittorio Pengo , MD University Hospital, University of Padova , Padova , Italy

Michelle Petri , MD, MPH Department of Medicine , Johns Hopkins University School of Medicine , Baltimore , MD , USA

Silvia S. Pierangeli , PhD Division of Rheumatology, Department of Internal Medicine, Microbiology and Pathology , University of Texas Medical Branch , Galveston , TX , USA

María Ángeles Polvorosa , MD Department of Autoimmune Diseases , Hospital Clínic de Barcelona , Barcelona , Spain

Anisur Rahman , PhD Centre for Rheumatology , University College London , London , UK

Jacob H. Rand , MD Department of Pathology , Monte fi ore Medical Center, Albert Einstein College of Medicine , New York , NY , USA

Elena Raschi , PhD Experimental Laboratory of Immunological & Rheumatological Researches , IRCCS Istituto Auxologico Italiano, Cusano Milanino , Milan , Italy

Robert A.S. Roubey , MD Department of Medicine and Thurston Arthritis Research Center, The University of North Carolina at Chapel Hill, Chapel Hill, USA

Ioana Ruiz-Arruza , MD Autoimmune Diseases Research Unit, Department of Internal Medicine , Hospital de Cruces, University of the Basque Country , Barakaldo , Bizkaia , Spain

Guillermo Ruiz-Irastorza , MD, PhD Autoimmune Diseases Research Unit, Department of Internal Medicine , Hospital de Cruces, University of the Basque Country , Barakaldo , Bizkaia , Spain

Jane E. Salmon , MD Hospital for Special Surgery, Weill Cornell Medical College of Cornell University , New York , NY , USA

Marielle Sanmarco , MD Department of Immunology , Hôpital de la Conception , Marseille , France

Yehuda Shoenfeld , MD Zabludowicz Center for Autoimmune Diseases , Sheba Medical Center , Ramat-Gan , Israel

Michal Solomon , MD Department of Dermatology , Sheba Medical Center , Ramat-Gan , Israel

Sandra Soro , MD Department of Autoimmune Diseases , Hospital Clínic de Barcelona , Barcelona , Spain

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xviiContributors

Anne E. Tebo , PhD Department of Pathology , University of Utah & ARUP Laboratories , Salt Lake City , UT , USA

Francesco Tedesco , MD Department of Life Sciences , University of Trieste , Trieste , Italy

Maria G. Tektonidou , MD, PhD First Department of Internal Medicine , University of Athens Medical School , Athens , Greece

Angela Tincani , MD Rheumatology Unit, Department of Medicine , Brescia University and Hospital , Brescia , Italy

Rolf T. Urbanus , PhD Department of Clinical Chemistry and Haematology , University Medical Center Utrecht , Utrecht , The Netherlands

Smita Vaidya , PhD Department of Pathology , University of Texas Medical Branch , Galveston , TX , USA

Panayiotis G. Vlachoyiannopoulos , MD Department of Pathophysiology , University of Athens Medical School, Laikon General Hospital , Athens , Greece

Rohan Willis , MBBS, MSc Division of Rheumatology, Department of Internal Medicine , University of Texas Medical Branch , Galveston , TX , USA

Gisele Zandman-Goddard , PhD Department of Medicine C , Wolfson Medical Center , Holon , Israel

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