Authors: Rita Baron-Faust,Jill Buyon
The authors wish to express gratitude to the following people who have provided insight, information, and peer review on the ever-evolving subject of women and autoimmunity during the research, writing, and updating of this book.
William P. Arend, MD
Distinguished Professor Emeritus
Division of Rheumatology
Anschutz Medical Campus
University of Colorado School of Medicine
Aurora, CO
Henry C. Bodenheimer, Jr., MD
Professor of Medicine
Hofstra North Shore-LIJ School of Medicine
Medical Director Medicine Serviceline
North Shore Health System
Manhasset, New York
Laurence A. Bradley, PhD
Professor of Medicine
Division of Clinical Immunology and Rheumatology
University of Alabama at Birmingham
D. Ware Branch, MD
Professor and Chair, Department of Obstetrics and Gynecology
University of Utah School of Medicine
Salt Lake City, UT
James Bussel, MD
Professor of Pediatrics
Weill Medical College of Cornell University
New York, NY
Vivian P. Bykerk, BSC, MD
Director of the Inflammatory Arthritis Center of Excellence
Hospital for Special Surgery
Associate Professor of Medicine
Weill Cornell Medical College
New York, NY
Daniel J. Clauw, MD
Professor of Anesthesiology, Medicine (Rheumatology), and Psychiatry
Director, Chronic Pain and Fatigue Research Center
University of Michigan
Ann Arbor, MI
Janine Austin Clayton, MD
Director, Office of Research on Women’s Health (2012)
Associate Director for Research on Women’s Health
Former Deputy Clinical Director, National Eye Institute (NEI)
National Institutes of Health (NIH)
Bethesda, MD
Terry F. Davies, MB, BS, MD
Florence and Theodore Baumritter Professor of Medicine
Icahn School of Medicine at Mount Sinai
Attending Physician
The Mount Sinai Hospital
New York, NY
Director, Division of Endocrinology and Metabolism
James J. Peters VA Medical Center
New York, NY
Madeline Duvic, MD
Professor of Medicine, Interim Chair, Department of Dermatology
Director, National Alopecia Areata Registry
MD Anderson Cancer Center
University of Texas
Houston, TX
Denise L. Faustman, MD, PhD
Director of Immunobiology
Massachusetts General Hospital
Boston, MA
Associate Professor of Medicine
Harvard Medical School
Cambridge, MA
Christine L. Frissora, MD, FACOG
Assistant Professor of Medicine
Weill Medical College of Cornell University
New York, NY
Allan Gibofsky, MD, JD
Professor of Medicine and Public Health
Weill Cornell Medical College
Attending Rheumatologist
Co-Director, Center for Inflammatory Arthritis and Biologic Therapy
Hospital for Special Surgery
New York, New York
Barbara S. Giesser, MD
Associate Clinical Professor of Neurology
University of California, Los Angeles
Peter H. R. Green, MD
Clinical Professor
Columbia University College of Physicians and Surgeons
Director, Celiac Disease Research Center
New York, NY
Bevra H. Hahn, MD
Chief, Rheumatology and Arthritis
Vice Chair, Department of Medicine
University of California, Los Angeles
Eon Nigel Harris, MPhil, MD, DM
University of the West Indies (Retired)
Kingston, Jamaica
Sunanda V. Kane, MD, MSPH
Professor of Medicine, Gastroenterology and Hepatology
Mayo Clinic
Rochester, MN
John H. Klippel, MD
Former President and Medical Director
Arthritis Foundation
Atlanta, GA
Chief Medical Officer
Focus Diagnostic Medicine
Boston, MA
Paul W. Ladenson, MD
John Eager Howard Professor of Endocrinology
Professor of Medicine, Pathology, and Oncology
Director, Division of Endocrinology and Metabolism
The Johns Hopkins Medical Institutions
Baltimore, MD
Mark Lebwohl, MD
Professor and Chairman of Dermatology
Mount Sinai School of Medicine
New York, NY
President, American Academy of Dermatology
Arnold I. Levinson, MD
Emeritus Professor of Medicine and Neurology
Perelman School of Medicine
University of Pennsylvania
Philadelphia, PA
Carol J. Levy, MD
Associate Professor of Medicine, Endocrinology, Diabetes and Bone Disease
Director of the Diabetes Center,
Associate Professor of Obstetrics, Gynecology, and Reproductive Science
Director, Type 1 diabetes/diabetes in Pregnancy Program
Mount Sinai Hospital, New York, NY
Michael D. Lockshin, MD, MACR
Director, Barbara Volcker Center for Women and Rheumatic Diseases
Hospital for Special Surgery
Weill Cornell Medical Center
Professor of Medicine and Obstetrics-Gynecology
Joan and Sanford Weill College of Medicine of Cornell University
New York, NY
Mary Loeken, PhD
Assistant Professor of Medicine
Harvard Medical School
Cambridge, MA
Investigator, Research Division
Joslin Diabetes Center
Boston, MA
Judith Luborsky, PhD
Research Scientist
Department of Biology
Woods Hole Oceanographic Institute
Woods Hole, MA
Susan Manzi, MD, MPH
Co-Director, Lupus Center of Excellence
Chair, Department of Medicine
West Penn Allegheny Health System
Pittsburgh, PA
Vice Chair and Professor, Temple University
Janice M. Massey, MD
Professor of Neurology
Chief of the Division of Neuromuscular Diseases
Duke University Medical Center
Durham, NC
Lloyd Mayer, MD (1952–2013)
Dorothy and David Merksamer Professor of Medicine
Director, Center for Immunobiology
Mount Sinai School of Medicine
New York, NY
Maureen D. Mayes, MD
Professor of Internal Medicine
Division of Rheumatology
University of Texas Health Science Center
Houston, TX
Philip J. Mease, MD
Director of Rheumatology Research
Swedish Medical Center
Clinical Professor of Medicine
University of Washington
Seattle, WA
Joan T. Merrill, MD
Professor
Head, Clinical Pharmacology Research Program
Oklahoma Medical Research Foundation
Oklahoma City, OK
Hal J. Mitnick, MD
Clinical Professor of Medicine
New York University Medical Center
New York, NY
Lila E. Nachtigall, MD
Professor of Obstetrics and Gynecology
New York University School of Medicine
NYU Langone Medical Center
New York, NY
J. Lee Nelson, MD
Professor and Director, Immunogenetics Program
Fred Hutchinson Cancer Research Center
University of Washington
Seattle, WA
David L. Olive, MD
Director, Wisconsin Fertility Institute
Middleton, WI
Melissa Palmer, MD
Clinical Professor of Medicine
New York University School of Medicine
New York, New York
Global Head, Clinical Development in Hepatology
Shire Pharmaceuticals
New York, New York
Ann L. Parke, MD
St. Francis Hospital and Medical Center
Hartford, CT
Michelle Petri, MD
Director, Lupus Clinic
Associate Professor of Medicine
Johns Hopkins Medical Institutions
Baltimore, MD
David Pisetsky, MD, PhD
Professor of Medicine
Duke University Medical Center
Co-director, Duke University Arthritis Center
Durham, NC
President, United States Bone and Joint Initiative
Anthony T. Reder, MD
Associate Professor, Department of Neurology
University of Chicago
Chicago, IL
Robert A. S. Roubey, MD
Associate Professor of Medicine
Division of Rheumatology and Immunology
University of North Carolina, Chapel Hill
Jane E. Salmon, MD
Professor of Medicine and Obstetrics and Gynecology
Weill Cornell Medical College
Collette Kean Research Professor
Hospital for Special Surgery
S. Gerald Sandler, MD
Professor of Medicine and Pathology
Georgetown University Medical Center
Washington, DC
Jasvinder A. Singh, MD, MPH
Professor of Medicine
University of Alabama, Birmingham
Daniel W. Skupski, MD
Associate Professor of Obstetrics and Gynecology
Weill Medical College of Cornell University
New York, NY
Virginia D. Steen, MD
Professor of Medicine
Division of Rheumatology, Allergy and Immunology
Georgetown University
Washington, DC
David A. Sullivan, PhD
Senior Scientist, Schepens Eye Research Institute
Associate Professor, Department of Ophthalmology
Harvard Medical School
Cambridge, MA
Rhonda Voskuhl, MD
Professor, UCLA Department of Neurology
Jack H. Skirball Chair for Multiple Sclerosis
Director, UCLA Multiple Sclerosis Program
University of California, Los Angeles
Yusuf Yazici, MD
Assistant Professor of Medicine
New York University School of Medicine
NYU Hospital for Joint Diseases
New York, NY
I
t is a great pleasure for me to welcome the revised and updated edition of the very first book on autoimmune diseases written for a general audience. Since the first edition was published, patients and their families have eagerly awaited news of the latest advances in the field. Many physicians are now using this book for reference in their practices.
Considered separately, most of the autoimmune diseases are relatively uncommon. But collectively, this group of related disorders actually represents the third most common category of disease in the United States. Many of these diseases start at a relatively young age and have a disproportionate effect on well-being. Patients usually require a lifetime of care because autoimmune diseases are currently incurable. Moreover, the diseases often have great impact on families, particularly if the patient is a young wife and mother. There are, therefore, many societal reasons for considering the autoimmune diseases a major public health problem. One of the unique features of this book is to discuss the impact of these diseases on the various stages of a woman’s life.
It is only relatively recently that we have begun to think of autoimmune diseases as a single category, much as we think of cancer or cardiovascular diseases—different manifestations of an underlying problem. Because they are regarded separately, autoimmune diseases are typically seen and treated by different medical specialists, and it has not been the mindset of either doctors or their patients to begin to think of these diseases together. Yet there are important reasons to do so.
One of the common features of autoimmune diseases is a bias toward women. This observation emphasizes the important interrelationship between the hormonal system and immune responses. The fact that there are a few autoimmune diseases that are not more common among women may provide valuable clues that the problem actually began before puberty. This book
outlines some of the latest theories as to why there is a female preponderance in autoimmunity.
Clinically, these diseases also travel together. A single patient may have more than one autoimmune disorder. This is quite common and important for patients and their physicians to know. Autoimmune diseases also cluster in families. And while that is an indication that genetics are involved, environment must also play a role.
When we study genetics, we compare twins who are genetically identical with those who are nonidentical. If a disease is caused by an environmental factor, there should be no difference between identical twins and nonidentical twins since, theoretically, both would be exposed to the same factor or factors. If there
is
such a difference, it suggests that genetics plays a role. In studies of the autoimmune diseases, we have found that for identical twins the chances of the second twin developing an autoimmune disease are about 30 percent, as opposed to 4 or 5 percent among nonidentical twins. This also tells us that even in identical twins, where genes are the same, the immune system does not react in identical ways.
Overall, genetics may account for about half the risks for autoimmune disease. However, what is inherited is not a specific gene that causes a defect that leads to disease, but several genes that collectively increase vulnerability or susceptibility.
While it is clear that there are environmental triggers for autoimmune disease, we still don’t know much about them or how they might cause disease. Probably the best documented triggers are drugs, such as those that cause lupus, and there is strong (but not conclusive) evidence that viruses and bacteria can also serve as triggers. Foods, such as gluten, can also serve as a trigger, as can hormones.
Even if one is genetically predisposed, the possibility exists that autoimmune disease can be avoided if the environmental trigger is eliminated. Indeed, as we continue to learn more about them, the victory over the autoimmune diseases may come from strategies to prevent rather than treat disease.
One of the common threads uniting all of the autoimmune diseases is the presence of
autoantibodies
. Finding autoantibodies in blood serum is a key first step in the diagnosis of autoimmune disease. We now know that some of those antibodies may have been present years before symptoms arise. So there
may be a period when we can intervene early enough to avoid or lessen chances of full-blown disease.
At the same time, the presence of autoantibodies is not a sufficient criterion for a diagnosis. It is a combination of clinical findings with laboratory data that helps a physician make a final diagnosis. In fact, many normal individuals have autoantibodies in their serum without any clinical evidence of disease.
Scientifically, we now know that many of the mechanisms involved in the production of one autoimmune disease also pertain to others. Therefore, studying the common factors in these diseases may help us understand the underlying causes of autoimmune disorders as a whole—and begin to treat the underlying causes of these diseases, not just the symptoms.
The common threads that connect the autoimmune diseases are woven throughout this important book, enabling readers to obtain a greater understanding of these illnesses individually and collectively.
Together with new information contained in this volume about diagnostic and treatment advances, patients and their families will get help to be better able to cope with these diseases and, as the title states, get on with their lives.
Noel R. Rose, MD, PhD
Department of Pathology,
Brigham and Women’s Hospital
Harvard Medical School,
Boston, MA
Director, PAHO/WHO Collaborating Center for Autoimmune Disorders