Autoimmune disease diagnostic tests

Autoimmune disorders

The blood cells in the body’s immune system help protect against harmful substances. Examples include bacteria, viruses, toxins, cancer cells, and blood and tissue from outside the body. These substances contain antigens. The immune system produces antibodies against these antigens that enable it to destroy these harmful substances.

When you have an autoimmune disorder, your immune system does not distinguish between healthy tissue and potentially harmful antigens. As a result, the body sets off a reaction that destroys normal tissues.

The exact cause of autoimmune disorders is unknown. One theory is that some microorganisms (such as bacteria or viruses) or drugs may trigger changes that confuse the immune system. This may happen more often in people who have genes that make them more prone to autoimmune disorders.

An autoimmune disorder may result in:

  • The destruction of body tissue
  • Abnormal growth of an organ
  • Changes in organ function

An autoimmune disorder may affect one or more organ or tissue types. Areas often affected by autoimmune disorders include:

  • Blood vessels
  • Connective tissues
  • Endocrine glands such as the thyroid or pancreas
  • Joints
  • Muscles
  • Red blood cells
  • Skin

A person may have more than one autoimmune disorder at the same time. Common autoimmune disorders include:

  • Addison disease
  • Celiac disease – sprue (gluten-sensitive enteropathy)
  • Dermatomyositis
  • Graves disease
  • Hashimoto thyroiditis
  • Multiple sclerosis
  • Myasthenia gravis
  • Pernicious anemia
  • Reactive arthritis
  • Rheumatoid arthritis
  • Sjögren syndrome
  • Systemic lupus erythematosus
  • Type I diabetes

What Are Common Symptoms of Autoimmune Disease?

Autoimmune Disease Basics

Autoimmune disease happens when the body’s natural defense system can’t tell the difference between your own cells and foreign cells, causing the body to mistakenly attack normal cells. There are more than 80 types of autoimmune diseases that affect a wide range of body parts.

The most common autoimmune diseases in women are:

  • Rheumatoid arthritis, a form of arthritis that attacks the joints
  • Psoriasis, a condition marked by thick, scaly patches of skin
  • Psoriatic arthritis, a type of arthritis affecting some people with psoriasis
  • Lupus, a disease that damages areas of the body that include joints, skin and organs
  • Thyroid diseases, including Graves’ disease, where the body makes too much thyroid hormone (hyperthyroidism), and Hashimoto’s thyroiditis, where it doesn’t make enough (hypothyroidism) of the hormone

Symptoms of autoimmune disease may be severe in some people and mild in others. “There are different degrees of autoimmune disease,” says Orbai. “The symptoms a person gets likely relate to multiple factors that include genetics, environment and personal health.”

Common Autoimmune Disease Symptoms

Despite the varying types of autoimmune disease, many of them share similar symptoms. Common symptoms of autoimmune disease include:

  • Fatigue
  • Joint pain and swelling
  • Skin problems
  • Abdominal pain or digestive issues
  • Recurring fever
  • Swollen glands

Many women say it’s hard to get diagnosed, something that Orbai agrees with. “It’s not black or white,” she says. “There’s usually no single test to diagnose autoimmune disease. You have to have certain symptoms combined with specific blood markers and in some cases, even a tissue biopsy. It’s not just one factor.”

Diagnosis can also be difficult because these symptoms can come from other common conditions. Orbai says women should seek treatment when they notice new symptoms.

“If you’ve been healthy and suddenly you feel fatigue or joint stiffness, don’t downplay that,” she says. “Telling your doctor helps him or her to look closer at your symptoms and run tests to either identify or rule out autoimmune disease.”

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Treatment of autoimmune disease

While there is no cure for autoimmune diseases, help is available. People diagnosed with autoimmune diseases often benefit from:

  • a healthy diet
  • maintaining a healthy weight
  • plenty of sleep
  • achieving the right combination of rest and exercise
  • reducing stress where possible, and finding ways to deal with unavoidable stress

Specific medicines and lifestyle changes can help. For example, people with type 1 diabetes inject insulin, while those with autoimmune diseases that affect skin receive advice about the sun, bathing, creams and lotions. People with Coeliac disease must follow a gluten-free diet.

In some people, autoimmune diseases can be mild, while others will need to invest a lot of time and care in managing their condition. However, most people with autoimmune conditions are able to live a full and enjoyable life.

Where to seek more help

You can find organisations that support people with specific autoimmune diseases at these sites:

  • Autoimmune Resource & Research Centre
  • Australasian Society of Clinical Immunology and Allergy

Autoimmune Diseases


A healthy immune system defends the body against disease and infection. But if the immune system malfunctions, it mistakenly attacks healthy cells, tissues, and organs. Called autoimmune disease, these attacks can affect any part of the body, weakening bodily function and even turning life-threatening.

Scientists know about more than 80 autoimmune diseases. Some are well known, such as type 1 diabetes, multiple sclerosis, lupus, and rheumatoid arthritis, while others are rare and difficult to diagnose. With unusual autoimmune diseases, patients may suffer years before getting a proper diagnosis. Most of these diseases have no cure. Some require lifelong treatment to ease symptoms.

Collectively, these diseases affect more than 24 million people in the United States.1 An additional eight million people have auto-antibodies, blood molecules that indicate a person’s chance of developing autoimmune disease. Autoimmune diseases are affecting more people for reasons unknown. Likewise, the causes of these diseases remain a mystery.

The following clinical trials are currently recruiting

  • Adult & Juvenile Myositis
  • Calcinosis Study
  • Immunity Cells in Blood
  • MYORISK Study
  • Myositis in Military Personnel
  • Rheumatic Disorders in Siblings

To volunteer for a study seeking causes of and possible treatments for autoimmune diseases, visit this clinical trials website, and you may find one that addresses your condition.

Studies indicate these diseases likely result from interactions between genetic and environmental factors. Gender, race, and ethnicity characteristics are linked to a likelihood of developing an autoimmune disease.2 Autoimmune diseases are more common when people are in contact with certain environmental exposures, as described below.

What is NIEHS Doing?

Unraveling the genetic and environmental underpinnings of autoimmune disease is a focus at NIEHS and the National Toxicology Program (NTP). Progress happens through multiple research efforts, such as:

  • Sunlight associated with autoimmune disease – This NIEHS study suggests exposure to ultraviolet radiation from sunlight may be connected to the development of juvenile dermatomyositis, an autoimmune disease associated with muscle weakness and skin rashes.3
  • Childhood poverty linked to rheumatoid arthritis in adulthood – NIEHS researchers discovered a link between lower socioeconomic status in childhood and rheumatoid arthritis in adulthood. The effect of lower childhood socioeconomic status and lower adult education level equaled the combined effect of having both a paternal and personal history of smoking.4
  • Agricultural chemicals and rheumatoid arthritis – Researchers at NIEHS found that exposure to some pesticides may play a role in the development of rheumatoid arthritis in male farm workers.5
  • Organic mercury may trigger autoimmune disease – In a study funded by NIEHS, methylmercury, even at exposure levels generally considered safe, may be linked to development of autoimmune antibodies in women of reproductive age. These antibodies could lead in turn to autoimmune diseases, such as inflammatory bowel disease, lupus, rheumatoid arthritis, and multiple sclerosis.6
  • Genetic factors in autoimmune muscle disease – NIEHS researchers identified the primary genetic risk factors associated with autoimmune muscle disease in Caucasian populations in Europe and the United States.7
  • Gene-environment interaction in rheumatoid arthritis – A study funded by NIEHS pinpointed the mechanics of a gene-environment interaction that could explain why the genetic risk for rheumatoid arthritis is amplified by environmental pollutants like cigarette smoke.8
  • Role of nutrition in development of autoimmune disease – NIEHS-funded research indicates that vitamin D may be important for preventing immune dysfunction in older populations.9 Another study funded by NIEHS found that dietary micronutrients could either improve or worsen lupus symptoms.10

Further Reading

Stories from the Environmental Factor (NIEHS Newsletter)

  • Rare Disease Group Earns Praise for International Collaboration (October 2019)
  • The Myositis Association Honors Rider’s Research (October 2018)
  • Measuring Autoimmunity in America (April 2018)
  • Capitol Hill Briefing – Autoimmune Disease and Environmental Exposure (November 2017)
  • Lisa Rider Receives Lifetime Achievement Award from Cure JM (May 2017)

Additional Resources

  • Facts About Autoimmune Diseases – from the NIH Office of Women’s Health
  • List of Autoimmune Diseases – from the American Autoimmune Related Diseases Association

Related Health Topics

  • Epigenetics
  • Gene-Environment Interactions

What Do My Results Mean?

Your test is positive if it finds antinuclear antibodies in your blood. A negative result means it found no ANAs.

A positive test is not very specific. It could mean anything from nothing at all to the presence of an autoimmune disease like lupus, a disease that damages joints, skin, and other organs. About 95% of people with lupus will test positive for antinuclear antibodies.

A positive test result can also mean that you have one of these other autoimmune diseases:

  • Sjögren’s syndrome — a disease that causes dry eyes and mouth
  • Scleroderma — a connective tissue disease
  • Rheumatoid arthritis — this causes joint damage, pain, and swelling
  • Polymyositis — a disease that causes muscle weakness
  • Mixed connective tissue disease — a condition that has symptoms of lupus, scleroderma, and polymyositis
  • Juvenile chronic arthritis — a type of autoimmune arthritis that affects children
  • Dermatomyositis — a rare disease that causes weak muscles and a rash
  • Polyarteritis nodosa — a rare disease that causes the blood vessels to swell up and damage organs

Even if your ANA test result is negative, it’s possible that you have an autoimmune disease. You might need other tests if your symptoms don’t go away.

The ANA test result can sometimes also be positive if you have one of these conditions:

  • Raynaud’s syndrome — a disease that makes your fingers and toes turn blue and feel cold
  • Thyroid diseases — Hashimoto’s thyroiditis, Grave’s disease
  • Liver diseases — autoimmune hepatitis, primary biliary cirrhosis
  • Inflammatory bowel disease
  • Lung diseases — idiopathic pulmonary fibrosis

About 20% of healthy people will test positive for antinuclear antibodies, even though they don’t have an autoimmune disease. You’re more likely to have a false positive result if you:

  • Are a woman age 65 or older
  • Have an infection such as mononucleosis or tuberculosis
  • Take blood pressure or anti-seizure drugs

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