ALL IN THE FAMILY
By Jacqueline M. Duda
Knowing your family medical history helps with detection of autoimmune disease
Doctors thought it was tendonitis. “My hands were hurting,” explains Donna Di Sante, a longtime volunteer with the American Autoimmune Related Diseases Association (AARDA). The pain, swelling, and redness spread to her feet—and then she couldn’t raise her arms. For years these symptoms would come and go.
When Di Sante stumbled across a description of rheumatoid arthritis (RA) in a medical textbook, she thought, “That’s what I have!” Di Sante’s physician tested and diagnosed her, at age 27, with RA, an autoimmune disease that affects the lining of the joints.
Di Sante is now 61, and RA has decimated her knees, hips, and shoulders. She is one of 50 million Americans—75 percent of them women—who are struggling with autoimmune disease. These diseases represent the fourth largest cause of disability among women, says AARDA’s chairman of the board of directors, Stanley M. finger. Autoimmune diseases are among he top 10 leading causes of all deaths among U.S. women age 65 and younger.
In autoimmunity, a category of disease, the autoimmune system not only attacks external invaders, such as bacteria and viruses, but also starts attacking healthy cells inside the body. And when the regulatory mechanisms that tightly control the immune responses are defective, absent, or depleted, an autoimmune disease can emerge.
“Autoimmune diseases have two components, says Finger, “a genetic predisposition and a trigger (something that activates the disease).”
I guess I get it from both sides of my family,” says Di Sante. Her maternal and paternal aunts both had RA, and her grandfather had Type 1 diabetes—the autoimmune form of diabetes.
“Autoimmune diseases often run in families,” explains Betty Diamond, MD, head of the center for autoimmune and Musculoskelatal Disease at North shore-Long Island Jewish Health System Foundation in Manhasset, New York. They might cluster—one family member could have Lupus (a systemic autoimmune disease that affects many parts of the body), another might have RA, and still another might have Chron’s (an autoimmune inflammatory bowl disease).
Having one autoimmune disease also increases the risk that a person will develop more, adds Diamond. “Genetics play a role, but they’re not the only player.”
“Autoimmune diseases are polygenic,” meaning it usually takes a combination of several genes to develop an autoimmune disease, explains Noel R. Rose, MD, professor of pathology, molecular microbiology and immunology at the John Hopkins Autoimmune Research Center in Baltimore. “he more genes predisposed to autoimmune disease you have, the more likely you are to develop an autoimmune disease.”
Research is helping scientists to sort them out. Rose says family history is the ‘poor man’s genome project’. “It’s the kind of evidence we started with years ago, to see who might have an inherited risk,” he explains.
What exactly triggers the disease seems to be different for everyone, although there is some relationship between stress or lack of sleep and onset of a disease or flare ups.
While there is no evidence to suggest that stress causes autoimmune disease, or is a trigger of autoimmune disease, stress can exacerbate flares (symptoms running amok). “stress makes the body go into fight or flight mode, which revs up your immune system,” finger explains. Not good for an immune system already in overdrive.
“Because these diseases develop slowly and are so diverse, it’s hard to put all the symptoms together,” says Rose. The symptoms aren’t clear cut. “And the concept of autoimmune disease id fairly recent,” he explains.
“Physicians used to be taught that autoimmune diseases were rare,” says Finger. So, historically, they didn’t go looking for one.
“:Awareness is the watchword,” says Rose. “The most important information in medicine that a physician can get is from the patients. You have to listen very carefully to what they are saying.”
Intermittent aches and pains in various parts of the body and unexplained, overwhelming exhaustion might be suspect, says Finger; women struggling with infertility or multiple miscarriages might be affected by autoimmunity. “The first thing a physician should do is take down the family history,” Finger explains. The more family members that have an autoimmune disease, the higher the risk.”
A blood test that coincides when symptoms are present is key. Blood work that measures auto-antibodies that develop when an autoimmune disease is present can help pinpoint a diagnosis. “We’re making great strides identifying these biomarkers,” says Finger.
“The frustrating thing about autoimmune disease is, you can’t necessarily tell by just looking at someone that they have a disease,” says Di Sante. “So it’s hard for people to understand the damage these conditions can do.” It’s like being a member of the walking wounded coalition. There are no quick fixes or cures. And some autoimmune diseases can lead to costly and life threatening health complications and lost productivity.
“everything takes longer to do,” Di Sante explains. For someone with Ra, a simple task such as buttoning a shirt may be downright impossible. Most autoimmune patients carry a major sleep debt, and some become unable to work. Exercise is difficult, especially during flare ups. “Support from family and friends helps,” adds Di Sante, who always keeps a good sense of humor and loves playing roles as a comedic actress.
“Autoimmune diseases should be thought about not just separately, but together,” Rose insists.
“Understanding one autoimmune disease helps you to understand others,” Diamond explains.
There has been progress,” says Rose. “I’ve been in this field for half a century, and this is a most exciting time.” New treatment advances are under way for lupus and multiple sclerosis, diseases that haven’t seen progress made in decades. “The research is paying off. But funding hasn’t kept pace with the numbers of people affected,” Rose adds. “It’s taking too many years to get treatment from the test tube to the patient.”