What Is Lupus and How Does It Affect the Body

From the 2012 Lupus Education Series

Understanding what lupus is as an autoimmune disease and how it affects the body was the focus of a presentation by Dr. Laura Geraldino, MD at Columbia Presbyterian Medical Center. Dr. Robert Winchester followed her presentation with an open question and answer session.

Laura Geraldino, MD – What is Lupus?

Addressing the packed room, Dr. Geraldino started the night off with simple explanation of how the immune system works to lay the foundation for understanding how it malfunctions in people with lupus.

An Autoimmune Disease

  • The immune system protects the body from foreign substances and infection.
  • But in an autoimmune disease like lupus, the immune system attacks the body.SLE is characterized by auto-antibodies, meaning that the antibodies attack the “self”
    SLE is unpredictable, varying in how it affects every person. It cannot be cured but controlled
  • Illnesses occur when the body tissues are attacked by its own immune system.

Manifestations of Lupus

The American College of Rheumatology provides the following criteria for diagnosing lupus:

  • Malar rash — the classic butterfly rash on the face crossing the nose and cheeks that can be very subtle or very noticeable
  • Discoid rash — round lumps on the skin that appear most often on the scalp and ears
  • Oral lesions — sores in the mouth, often on the roof of the mouth
  • Arthritis — joint pain, mostly in the hands and knees
  • Serositis — inflammation around the lungs, heart and abdomen
  • Lupus Pleuritis — chest pain with breathing, fluid around the lungs
  • Lupus Nephritis — kidney disease varies widely from person to person; biopsy is used to determine the type and extent of damage
  • Lupus in the Nervous System — varies widely, affecting the brain and nervous system. Nineteen related physical and emotion syndromes include anxiety, headaches, seizures and memory loss.
  • Positive ANA — Blood test used to screen for lupus. Almost everyone who has lupus will have a positive ANA test, but not everyone who has a positive ANA test has lupus.

Other Manifestations

  • Fatigue — very common and can be very debilitating
  • Fever — can be caused by lupus or by something unrelated so needs to be checked by doctor
  • Hair loss — can be thinning hair or patches
  • Purple fingers in the cold — painful
  • Blood clots

Consequences

People with lupus are at greater risk for health issues and death, making early diagnosis and close monitoring essential! However, the outlook is much more positive for people with lupus than it was 50 years ago.

Bio: Laura Geraldino Pardilla, MD
Dr. Geraldino specializes in autoimmune diseases, especially Systemic Lupus Erythematosus (Lupus) and Rheumatoid Arthritis. She heads up the Lupus Clinic at Columbia University Medical Center. Working in this predominantly Hispanic neighborhood made her notice and develop an interest for lupus as an autoimmune disease with increased frequency and severity in this ethnic group. Having completed her residency in Internal Medicine at State University of New York Upstate Medical University, Syracuse, NY, Dr. Geraldino went on to complete a second fellowship in musculoskeletal ultrasound at USSONAR Cooper Health System.

Robert Winchester, MD – Who Gets Lupus and Why?

Dr. Winchester’s approach was quite different – instead of giving a presentation, he asked the audience for questions relating to who gets lupus and why it develops. Following is a sampling of the very lively Q&A “conversation” between Dr. Winchester and attendees.

  1. How is lupus a genetic disease?
    It is not inherited in a simple fashion, like for example eye color, but is the result of at least 40-50 genes each of which contribute a part of the risk for lupus. However, these are not abnormal genes in the sense that the gene for sickle cell disease makes an abnormal hemoglobin in the red cell. Each gene independently appears to be beneficial, perhaps contributing to a stronger and more vigorous immune response. However it looks that when we inherit too many of these genes they “gang up” and result in the abnormal immune response that results in lupus.
    Our knowledge of these genes comes from the Human Genome Project, where scientists have sequenced DNA, which led to the identification of all of the different genes.  Research work supported by the Lupus Research Institute has helped help show that these genes are important to developing lupus and that they work in some part of the immune system work; some may help in some circumstances but have a harmful effect in others. We are going towards personalized medicine which would allow us to identify specific genes that predict risk for lupus for some people.
  2. How do you differentiate among all the autoimmune diseases to determine that a person has lupus?
    Good question as there are over 100 autoimmune diseases and many of the symptoms overlap. But we look for a pattern of symptoms that indicate the processes going on. For instance, Sjogren’s and lupus have many similar clinical and laboratory features such as a positive ANA, but Sjogren’s symptoms typically affect the eyes and the ability to swallow dry crackers because of the lack of saliva, while lupus does not. So when a patient describes those symptoms, we can begin to hone in on where in the body the disease is targeting that indicate which type of autoimmune disease may be responsible.
  3. How does lupus develop?
    Lupus does not just happen over a few hours or days. Recent research work shows years before you develop the symptoms of lupus, those autoantibodies were already there in your body and were attacking your “self” just a little so you still felt perfectly healthy. This is considered a pre-clinical, pre-lupus state and it may offer a window of time before the disease symptoms starts when we may be able to intervene to change the course of this autoimmune response and block development of the clinical disease.

    We are just learning about this and about the genes that are responsible, but with the groundbreaking research going on now, within five years, we may be able to modify or nullify the genes that can cause lupus. We hope we can put the genie back in the bottle to maintain or revert back to this pre-lupus state.

    Even now, if there is a strong family history of lupus, we might consider starting a person who is found to have a positive ANA and other certain autoantibodies on an anti-malarial drug like hydroxychloroquine to try to prevent the clinical disease of lupus from developing. Also, if we know a person as a family history so may be predisposed to lupus, we would recommend ways to reduce their risk by cutting down on lifestyle factors known to trigger lupus such as avoiding direct sunlight and not smoking.

  4. Why don’t we hear much about research in lupus?
    As you know, lupus is an extremely difficult and challenging disease. There has always been research going on, but now there is an explosion of research in the field and we expect revolutionary changes in how the disease is diagnosed and treated within about five years. And since lupus is an autoimmune disease among at least 100 others, advances in one disease like type-1 diabetes can be an advance in another autoimmune disease like lupus. So some research that was not initially targeted to lupus in fact produces knowledge that advances our understanding of lupus.
  5. Is lupus caused by genetics or environment?
    Both. It is genetic in the sense that you always had the predisposition to make the antibodies that cause lupus. But these predisposing genes are influenced by environmental events, such that an infection or smoking can bring it out.
  6. Does nutrition have any impact on lupus?
    There is no evidence that food impacts lupus. However, there is research looking at whether chemical additives in foods could have a negative effect. Also studies have indicated that below normal levels of Vitamin D may raise the risk for lupus while taking the vitamin might reduce the severity of the disease. Research has also suggested that small amounts of alcohol might be beneficial, perhaps to relax the body and alleviate stress. But not too much!
  7. Does vaccination impact lupus?
    There is no clear answer yet. But research has indicated that there is no relationship between immunization and a greater likelihood of developing lupus or a greater risk for developing a flare. In fact, immunizations like the flu or pneumococcal vaccine are generally recommended for people with lupus because you are immunodeficient. In lupus, immunodeficient or immunocompromised means that while the lupus is causing your body’s antibodies to attack your own body they are distracted from attacking the invader such as the flu virus. Vaccination can stimulate your body’s immune system in a positive way to create antibodies that will attack the virus specifically.

Bio: Robert Winchester, MD
Dr. Winchester is a Professor of Pediatrics, Pathology, and Medicine at Columbia University and has spent his career studying the autoimmune diseases and the genetic basis of those who develop them. He identified various allelic forms of HLA-DR, and was the first to show that the genetic susceptibility to systemic lupus differed from that associated with rheumatoid arthritis. Many of Dr. Winchester’s discoveries in the genetic factors influencing lupus have been made possible by grants from the Lupus Research Institute

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