Making a tough diagnosis
To treat an autoimmune disease properly, it’s vital to diagnose it correctly.
That’s no small challenge. More than 80 different autoimmune diseases have been identified, many of them sharing similar or overlapping symptoms.
The problem of autoimmune disease is widespread and becoming more prevalent:
- Affects an estimated 23.5 million Americans, many of them undiagnosed1
- Disproportionately affects women in their childbearing years but can affect men and all age groups, including children and seniors
- A top 10 leading cause of death in female children and women under 641
Quest Diagnostics testing for autoimmune diseases helps you evaluate your patient’s symptoms, reach a confident diagnosis and, when appropriate, make a suitable referral.
Reach a careful diagnosis of autoimmune disease
Many autoimmune diseases present with similar yet nonspecific symptoms that in some cases can flare and remit:
- Muscle aches and fatigue
- Low fever
Diagnosis of autoimmune diseases requires a careful analysis of the patient’s clinical exam, together with a medical history and laboratory test results.2, 3
Types of autoimmune diseases
Systemic Lupus Erythematosus (SLE) or Lupus
Inflammatory Bowel Disease (IBD)
Connective tissue disorders
Mixed connective tissue disease (MCTD)
Autoimmune liver disease
Our testing services identify biomarkers for four forms of inflammatory arthritis:
- Rheumatoid arthritis (RA) is a form of inflammatory arthritis. Symptoms and signs include pain, swelling, stiffness, debilitating joint erosion and loss of joint function.4 Read more about RA
- Gout is a complex form of arthritis characterized by sudden, severe attacks of pain, redness and tenderness in joints, often the joint at the base of the big toe5
- Erosive psoriatic arthritis is similar to RA, but more serious because it extends to joints, ligaments and tendons. It is common among people with psoriasis6
- Juvenile idiopathic arthritis (JIA), is the most common arthritis in children under 17. It causes long-term joint inflammation, with ancillary symptoms that may include fever, rash and eye inflammation7
- A systemic disease that targets many bodily systems and organs
- Can affect blood vessels, muscles, joints, the digestive tract, lungs, kidneys, heart, and central nervous system6,8
Quest offers testing for Lupus (SLE) including, the Lupus (SLE) Panel that is a comprehensive test for SLE.
This disorder, in which the immune system attacks the moisture-producing lacrimal and salivary glands, often accompanies other immune system disorders such as rheumatoid arthritis and lupus. Treatment focuses on relieving its common symptoms, most typically severe dry eyes and dry mouth.9
IBD is a chronic inflammation of the digestive tract. It is characterized by severe diarrhea, pain, fatigue, and weight loss. The risk of cancer also rises with the frequency of inflammation.
There are two potentially life-threating IBDs: Ulcerative colitis and Crohn’s disease.
- Ulcerative colitis is a disease of the large intestine, also known as the colon, in which the lining becomes inflamed and develops tiny open ulcers that produce pus and mucus. The combination of inflammation and ulceration can cause abdominal discomfort and frequent emptying of the colon.10
- Crohn’s disease is a chronic inflammatory condition of the gastrointestinal tract. Though similar to ulcerative colitis, Crohn’s may affect any part of the gastrointestinal (GI) tract, from the mouth to the anus. Ulcerative colitis is limited to the colon.10
Learn how the Inflammatory Bowel Disease Differentiation Panel helps you diagnose these two common and debilitating IBDs, ulcerative colitis and Crohn’s disease. This simple inflammatory bowel disease algorithm can also assist with a differentiated IBD diagnosis.
Systemic sclerosis (SSc) or scleroderma is characterized by overgrowth of connective tissue that causes swelling or pain in muscles and joints. Other symptoms:
- Calcium deposits in connective tissue
- Raynaud’s syndrome, characterized by feelings of numbness and cold, often in the extremities, in response to cold temperatures or stress
- Narrowing of blood vessels in the hands or feet
- Red spots on the hands and face
- Narrowing of the esophagus, and thick tight skin on fingers6
Quest testing detects SCL-70 anti-topoisomerase antibodies (ATA), the antibody found in SSc.
CREST (Calinosis, Raynaud’s phenomenon, Esophageal dysfunction, Sclerodactyly and Telangiectasia) is a slowly progressing, less serious form of systemic sclerosis.6
- Affects all ages, but most common in women under 30
- A rare disorder with features of SLE, SSc and polymyositis
- Similar symptoms to other connective tissue disorders and RA: Raynaud’s phenomenon, arthritis, heart, lung and skin abnormalities, kidney disease, weakness, and esophagus dysfunction6
Learn more about testing for MCTD.
- Includes polymyositis, dermatomyositis and, occasionally, clinical manifestations of both (known as “overlap syndrome”)
- Causes muscle weakness, usually in the proximal limbs
- Often accompanied by rash
- Other symptoms: pain or fatigue after walking or standing, difficulty climbing steps or reaching overhead, tripping, falling, and trouble with swallowing or breathing11
Myositis testing is available from Quest.
Autoimmune hepatitis disease
- Characterized by progressive hepatocellular loss and cell-mediated immunologic attack
- Accounts for 11%-23% of chronic liver disease in North America
- Leads to 6% of all U.S. liver transplants
Quest Diagnostics offers testing for liver disease. A unique antibody panel is available that identifies autoimmune hepatitis disease and distinguishes it from primary biliary cirrhosis.12-14 Learn more about the Autoimmune Hepatitis Diagnostic Panel.
Primary biliary cirrhosis (PBC)
- Inflammation of the bile ducts of the liver
- Commonly occurs in middle-aged women
- Blocks bile flow, eventually causing cirrhosis
- Symptoms can be nonexistent or periodic: abdominal pain, fatigue, jaundice and others15
You can easily test for PBC with Quest.
Primary sclerosing cholangitis (PSC)
- Rare disease of the liver and bile ducts
- Usually leads to end-stage liver disease
- Most patients are men between 25 and 40 years16
- 70%-90% of patients also have inflammatory bowel disease17
The Quest test for anti-neutrophil cytoplasmic antibodies (P-ANCA) can help establish a PSC diagnosis.
For answers to common questions about autoimmune disease testing, download our FAQ.
For a comprehensive list of autoantibodies and their disease associations and prevalence, download this chart.
Ask us about Autoimmune diseases testing
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1. Autoimmune statistics. American Autoimmune Related Diseases Association website. http://www.aarda.org/autoimmune-information/autoimmune-statistics/. Accessed September 21, 2015.
2. Autoimmune diseases. Medline Plus website. http://www.nlm.nih.gov/medlineplus/autoimmunediseases.html#summary. Accessed September 21, 2015.
3. Tips for getting a proper diagnosis of an autoimmune disease. American Autoimmune Related Diseases Association website. http://www.aarda.org/wp-content/uploads/2013/08/tips_for_auto_diagnosis1.pdf. Accessed September 21, 2015.
4. Inflammation and Stiffness: The Hallmarks of Arthritis. Arthritis Foundation website. http://www.arthritis.org/about-arthritis/understanding-arthritis/arthritis-swelling-and-stiffness.php. Accessed January 7, 2016.
5. What is Gout? National Institute of Arthritis and Musculoskeletal and Skin Diseases. http://www.niams.nih.gov/Health_Info/Gout/gout_ff.asp. Accessed January 7, 2016.
6. Description of diseases. American Autoimmune Related Diseases Association website. http://www.aarda.org/descriptions-of-diseases/. Accessed September 21, 2015.
7. Juvenile Arthritis. American College of Rheumatology website. http://www.rheumatology.org/I-Am-A/Patient-Caregiver/Diseases-Conditions/Juvenile-Arthritis. Accessed January 7, 2016.
8. Types of lupus. Lupus Foundation of Minnesota. http://www.lupusmn.org/about-lupus/types-of-lupus/. Accessed September 21, 2015.
9. What is Sjögren’s? Sjögren’s Syndrome Foundation website. https://www.sjogrens.org/home/about-sjogrens. Accessed January 7, 2016.
10. What are Crohn’s and Colitis? Crohn’s & Colitis Foundation of America website. http://www.ccfa.org/what-are-crohns-and-colitis. Accessed January, 7, 2016.
11. Learn About Myositis. The Myositis Association website. http://www.myositis.org/learn-about-myositis. Accessed January 7, 2016.
12. Czaja AJ. Autoimmune hepatitis-approach to diagnosis. MedGenMed. 2006;8:55-68.
13. Seaberg EC, Belle SH, Beringer KC, et al. Liver transplantation in the United States from 1987-1998: updated results from the Pitt-UNOS liver transplant registry. Clin Transpl. 1998:17-37.
14. Czaja AJ, Freese DK. AASLD Practice Guidelines: Diagnosis and treatment of autoimmune hepatitis. Hepatology. 2002;36:479-497.
15. Inflammation and Stiffness: The Hallmarks of Arthritis. Arthritis Foundation website. http://www.arthritis.org/about-arthritis/understanding-arthritis/arthritis-swelling-and-stiffness.php. Accessed January 7, 2016.
16. Poupon R, Chazouilleres O, Poupon RE. Chronic cholestatic diseases. J Hepatol. 2000;32:129–140.
17. Lee YM, Kaplan MM. Primary sclerosing cholangitis. N Engl J Med. 1995;332:924-933.