Heredity & Autoimmune Disease

Quick—how many autoimmune diseases can you name?

If you’re like most Americans, the answer is “none”…and that’s a bigger problem than you might guess. Why? Because autoimmune diseases affect as many as one in 20 Americans, and if anyone in your family has one, you are at risk, too. Autoimmune diseases can be quite debilitating, even fatal—and with this type of illness, patient awareness is particularly important.

Scientists have identified more than 100 autoimmune illnesses, and the list includes some names that you surely will recognize—such as multiple sclerosis, diabetes and celiac disease, not to mention rheumatoid arthritis and psoriasis. The American Autoimmune Related Diseases Association (AARDA) is trying to educate people about the fact that all autoimmune diseases are genetically linked to one another…your mother’s psoriasis is related to your brother’s arthritis and your cousin’s Crohn’s disease. For information and guidance, I called two experts—Noel R. Rose, MD, PhD, director of the Autoimmune Disease Research Center at The Johns Hopkins University in Baltimore, and Virginia T. Ladd, president and executive director of AARDA in Eastpointe, Michigan.

CONNECTING THE DOTS

It’s not always clear what the trigger is (more about that in a minute), but all autoimmune diseases occur when your immune system attacks your body’s own proteins, mistakenly identifying them as invaders and producing antibodies or T cells to overcome them. The result is any one of a number of serious and chronic illnesses that can develop in any bodily system, but most commonly in the nervous, gastrointestinal and endocrine systems, blood, kidneys, lymph nodes, heart and liver.

While their symptoms vary widely, autoimmune diseases share several common threads:

  • They can run in families, although they may take different forms in different family members. The shared trait is an increased susceptibility to autoimmune disease in general.
  • Women are more susceptible than men as a result of their enhanced immune system. Three out of four people with an autoimmune disease are women. Ethnicity is a factor, too, with African American, Hispanic and Asian women more prone than Caucasians to certain autoimmune disorders.
  • Environmental factors also can trigger autoimmune disease. Research has found links with viral and bacterial infections, toxins, drugs, chemicals and even sunlight.

 

DO THESE SOUND FAMILIAR?

Here are some of the most common autoimmune diseases (you can view a more comprehensive list at aarda.org)…

  • Celiac disease. An intolerance for gluten in wheat and other grains.
  • Crohn’s disease: A form of inflammatory bowel disease.
  • Diabetes type 1: A lifelong endocrine condition resulting from the autoimmune destruction of the cells in the pancreas that manufacture insulin.
  • Hashimoto’s disease: An autoimmune disease in which the thyroid is gradually destroyed.
  • Lupus: A chronic, inflammatory disorder that damages the joints, skin, kidneys and other parts of the body.
  • Multiple sclerosis: A crippling autoimmune disease that affects the brain and spinal cord.
  • Psoriasis: An inflammatory skin disorder characterized by redness and silvery scales.
  • Rheumatoid arthritis: A painful autoimmune joint disease that involves other organs.
  • Scleroderma: A disorder in which inflammation infiltrates the skin, esophagus, lungs and other organs.

 

WATCH THE SYMPTOMS

Many autoimmune disorders have symptoms that are vague, transitory and hard to pin down, which is undoubtedly a factor in a common complaint among people with autoimmune diseases—that doctors don’t take them seriously. Ladd told me that it’s not uncommon for people to see four or five different doctors over a period of five years or so before finding one who pays close attention, orders the appropriate tests and pins down a diagnosis. The process can be incredibly frustrating, especially given that patients often get sicker and sicker before getting any meaningful treatment.

Does any of this sound familiar to you? Are any members of your family struggling with similar stories of disconnected symptoms that are not part of an identifiable disease, or has anyone already been diagnosed with an autoimmune disease? If so, you need to take your symptoms very seriously. Here are the steps you should take to find the true cause of your symptoms and get a proper diagnosis and treatment…

  • Research your family’s medical history, and share it with your doctor. Collect information about not just your immediate family, but also grandparents, aunts, uncles and cousins.
  • Write down all your symptoms—even if they appear unrelated—and tell your doctor about them. Note: Dr. Rose said that the single most widespread symptom caused by autoimmune diseases is extreme fatigue, which she described as going way beyond ordinary tiredness—it’s a state of exhaustion that makes it impossible to do what you need to do.
  • If many of your symptoms fall into a particular category (say, gastrointestinal distress or joint pain) ask your primary care provider to refer you to an appropriate specialist (such as a gastroenterologist or a rheumatologist). When you see the specialist, share your family history and ask to have autoimmune disease investigated.
  • Get a second opinion—or a third or fourth one, if necessary, if symptoms continue but no cause is discovered. And…if your doctor doesn’t take your concerns seriously, you need a new doctor!