Why Are Autoimmune Diseases So Difficult To Diagnose
Because symptoms tend to be quite nonspecific and can be linked to any number of conditions, diagnosing autoimmune diseases is notoriously difficult. Additionally, symptoms often flare and remit, meaning they are not always present or consistent.
Patients who suffer from one autoimmune disease are also more likely to suffer from multiple autoimmune conditions, which further complicates the diagnostic process.
According to the Autoimmune Diseases Association, it takes on average 4.6 years and nearly 5 doctors for a patient to receive a correct autoimmune disease diagnosis. This can be an incredibly frustrating process for both the physician and the patient.
What Are Common Symptoms Of Autoimmune Disease
Between taking care of yourself and family members and trying to manage a social life and career, its common for women to feel tired and achy. But are these symptoms of a stressful life, or could they be tied to an underlying condition like autoimmune disease?
Ana-Maria Orbai, M.D., M.H.S., is a rheumatologist at the Johns Hopkins Arthritis Center. Rheumatologists specialize in diagnosing and treating musculoskeletal diseases and autoimmune conditions . Orbai talks about how to recognize common autoimmune disease symptoms and when you should see a doctor.
Graft Dysfunction After Liver Transplantation
Autoimmune hepatitis can recur or develop de novo after liver transplantation, and it should be considered in all transplanted patients with graft dysfunction .108113 The frequency of recurrence ranges from 8% to 68%, depending in part on the performance of liver tissue examinations by protocol or by clinical indication.113118 Autoimmune hepatitis recurs in 8% to 12% after 1 year and 36% to 68% after 5 years .113,119122De novo autoimmune hepatitis occurs in 1% to 7% of patients 1 month to 9 years after transplantation for nonautoimmune liver disease.108,120,123125
Diagnostic criteria for recurrent or de novo autoimmune hepatitis after liver transplantation have not been codified.113 Most patients have hypergammaglobulinemia, increased serum levels of IgG, conventional autoantibodies, and interface hepatitis with or without portal plasma cell infiltration.119,126,127 Adults with de novo autoimmune hepatitis may develop antibodies against glutathione-S-transferase T1 .128 Recurrent and de novo autoimmune hepatitis are variably responsive to conventional corticosteroid therapy cirrhosis develops in as many as 60% graft loss is possible and retransplantation is required in 8% to 50%.113
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The Role Of Autoimmune Tests
Theres not one specific cause of autoimmune diseasethere may be a genetic component, or an outside factor such as a medication or bacterial infection. In addition, several autoimmune disorder symptomsfever, fatigue, and joint pain, for instanceare indicative of many other health issues.
Autoimmune disease blood tests can provide much-needed clarity, supplying information you can use as a roadmap for living life to the fullest. Weve designed our autoimmune disease tests to help you feel empowered. You can order a test on your own, without waiting for a doctors appointment, and then get the autoimmune panel performed at one of our more than 4,000 partner labs across the country.
What Is An Immunoglobulins Blood Test
This test measures the amount of immunoglobulins in your blood. Immunoglobulins are also called antibodies. Antibodies are proteins that your immune system makes to fight germs, such as viruses and bacteria. When you’re exposed to germs, your body makes unique antibodies that are specifically designed to destroy only those germs.
An immunoglobulins test usually measures three main types of immunoglobulin antibodies that do different jobs to protect your health:
- IgM antibodies are the first immunoglobulins your body makes after you’re exposed to germs. They provide short-term protection while your body makes other antibodies. IgM antibodies are in your blood and lymph fluid .
- IgG antibodies are very important for fighting infections from bacteria and viruses. Most of the immunoglobulins in your blood are IgG. You also have some IgG antibodies in all your body fluids. Your body keeps a “blueprint” of all the IgG antibodies you have made. That way, if you’re exposed to the same germs again, your immune system can quickly make more antibodies.
- IgA antibodies protect your respiratory tract and your digestive system from infections. You have IgA antibodies in your blood, saliva, and gastric “juices.”
An immunoglobulins blood test measures the amounts of IgM, IgG, and IgA in your blood to help diagnose different types of health conditions that may affect your immune system.
Other names: quantitative immunoglobulins, total immunoglobulins, IgG, IgM, IgA testing
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Aiding Earlier Diagnosis Of Autoimmune Disease And Better Health With Reliable Insights Convenience And Technology
The problem of autoimmune disease is widespread and becoming more prevalent, affecting an estimated 24 million Americans in the US, many of them undiagnosed.1 Complicating matters, many autoimmune diseases present with similar yet nonspecific symptoms that in some cases can flare and remit.
As an industry leader in diagnostic testing, Quest Diagnostics is proud to support primary care physicians, and other specialty care providers with innovative autoimmune tests and panels that can help facilitate earlier detection and treatment of autoimmune diseases.
We offer over 150 specialty tests and panels backed by clinical evidence, aligned with guidelines from leading health organizations, and performed with state-of-the-art automation to reduce subjectivity and help you confidently guide clinical decisions. Quest Diagnostics brings reliable insights, convenience, and technology together so you can take action toward better health for your patients.
Why Do I Need An Immunoglobulins Blood Test
You may need this test if you have symptoms that could mean your immunoglobulin levels are too low. If you have too few immunoglobulins, you have an immunodeficiency.
Symptoms of low levels of immunoglobulins usually include having many, repeated infections and other problems, such as:
- Sinus, throat, and ear infections
- Respiratory infections, such as pneumonia and bronchitis
- Serious infections from germs that dont usually cause problems in healthy people, such as:
- A yeast infection in the mouth, eyes, or digestive tract
You may need an immunoglobulins test if immunodeficiency runs in your family, or your health care provider thinks you may have a problem making normal levels of immunoglobulins.
You may also need this test if your provider thinks you may have high levels of immunoglobulins from an autoimmune disease or a cancer that affects your blood, bone marrow, and/or immune system. These cancers may cause a very high level of certain immunoglobulins. But those immunoglobulins dont work normally. So, even though your levels are high, you may have frequent infections and other symptoms of low immunoglobulin levels.
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Why And When Are Autoantibody Tests Performed
Autoantibody tests are performed, along with x-rays, other imaging scans, and biopsies, to help diagnose an autoimmune disorder. In some cases, they are used to help evaluate the severity of the condition, monitor progress of the disease, and assess the effectiveness of treatments.
Autoantibody tests may be ordered when a person presents with chronic, progressive arthritic symptoms, fever, fatigue, muscle weakness, and/or a rash that cannot readily be explained.
One of the most commonly ordered tests is the antinuclear antibody test. ANA may be positive with a variety of autoimmune diseases, including lupus, Sjögren syndrome, rheumatoid arthritis, and autoimmune hepatitis. When someone has a positive ANA, other autoantibody tests are used to help make a diagnosis. For example, an anti-dsDNA and a panel of 4 or 6 autoantibody tests called extractable nuclear antigens are typically ordered. The pattern of results for these autoantibodies helps to determine if a particular autoimmune disorder is likely to be present.
Results of these autoantibody tests must be interpreted with care and in context. This is because not everyone with an autoimmune disease will have detectable autoantibodies. A health practitioner will consider the results in conjunction with an individuals personal and medical history along with signs and symptoms when making a diagnosis.
Autoantibodies And Immunologic Studies
The presence of an autoantibody in a patient does not assure a diagnosis of an autoimmune disease. Rather, a positive serologic test in the company of appropriate signs and symptoms helps to support a diagnosis. Serologic testing is flawed by the presence of autoantibodies in healthy individuals and other patients with non-autoimmune diseases and imperfect testing systems. Historically, many different methods were used to test for the presence an autoantibody. Today, testing is principally done with enzyme immunosorbent assays because of cost saving measures with mechanization.
Enzyme-linked immunosorbent assay
Rheumatoid factor and Anti-cyclic citrullinated peptide antibody
Immunofluorescence is particularly useful as an initial screening test for those individuals suspected of having an autoimmune disease SLE, Sjögren’s syndrome, RA, mixed connective tissue disease , scleroderma, polymyositis/dermatomyositis . However, one must use caution when interpreting ANA as this autoantibody is found in nonrheumatic diseases such as Hashimoto’s thyroiditis, Graves’ disease, autoimmune hepatitis, primary autoimmune cholangitis, primary pulmonary hypertension, and in various infections and malignancies. Furthermore, the presence of low titer ANA occurs more frequently in elderly populations.
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Common Autoimmune Disease Symptoms
Despite the varying types of autoimmune disease, many of them share similar symptoms. Common symptoms of autoimmune disease include:
- Abdominal pain or digestive issues
- Recurring fever
Many women say its hard to get diagnosed, something that Orbai agrees with. Its not black or white, she says. Theres 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. Its 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 youve been healthy and suddenly you feel fatigue or joint stiffness, dont 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.
How Many Autoimmune Diseases Are There
There are over 80 different autoimmune diseases. Autoimmune disease does not describe a single disease but covers a huge variety of diseases that can affect almost any part of our body.
An autoimmune disease can affect specific parts of the body, such as coeliac disease where the lining of the small intestine becomes inflamed, and multiple sclerosis where the immune system attacks the nerve cells in the brain and spinal cord. But some autoimmune diseases can affect almost the entire body, such as lupus which affects the skin, heart, lungs and kidneys. Lupus sufferers can develop a distinctive characteristic butterfly-shaped rash over their cheeks and nose. Like many autoimmune diseases, the cause of lupus is poorly understood, and diagnosis can sometimes be difficult.
Interestingly, two of the most common thyroid diseases, Graves Disease and Hashimotos thyroiditis, are caused by an autoimmune response. In Graves disease, the immune system produces antibodies that cause the thyroid to produce an excess of hormones. In Hashimotos thyroiditis, the body attacks the cells in the thyroid gland leading to a decrease in the number of hormones produced.
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Who Diagnoses Autoimmune Disease
If you suspect you have an autoimmune disease, you may need to see a specialist to get diagnosed. In general, gastroenterologists or rheumatologists are the ones who diagnose these conditions. Gastroenterologists specialize in digestive disorders, while rheumatologists focus on inflammatory conditions.
Even though your primary care doctor may not be able to diagnose you with an autoimmune disorder, they can still be a good place to start. They may be able to run some tests that can rule out other potential problems that could be causing your symptoms. They can also refer you to the appropriate specialist to get you the diagnosis you need.
Autoimmune Blood Tests And Conditions
There are many different types of autoimmune conditions, which can be differentiated by the areas of which they attack:
Autoimmune diseases are not the easiest conditions to diagnose and a range of tests including use of diagnostic kits, physical exams, laboratory testing, radiography and biopsies have to be undertaken in order to fully diagnose the condition and type.
There are a few reasons as to why diagnosing an autoimmune condition is tricky:
- Patients initially start off with common symptoms such as fatigue, joint pain, muscle pain, fever and sometimes weight fluctuations which are not specific to just an autoimmune condition.
- The symptoms also are not constant and can come and go in various severities.
- More often than not patients with autoimmunity tend to have more than one autoimmune condition.
Testing for autoimmune disease therefore needs more than a single types of examination to successfully identify the condition.
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Calcineurin Inhibitors As Frontline And Salvage Therapies
Cyclosporine has been used successfully as a frontline agent in children and adults with autoimmune hepatitis,36,274,275 but the only randomized clinical trial involving 39 patients has indicated equivalency rather than superiority of cyclosporine therapy to standard combination therapy .51 In the absence of clear advantages that outweigh the risks of treatment and its expense, frontline therapy with cyclosporine cannot be justified.49 Similarly, tacrolimus has also had success as a frontline treatment in 21 patients who improved their serum ALT and AST levels after 3 months.35 The cytopenia and nephrotoxicity that developed in these patients were not treatment-ending, but validation of this regimen by randomized clinical trial has not emerged after 20 years.
Treatment with the calcineurin inhibitors is commonly indefinite, and it requires experience to ensure careful monitoring and appropriate dose adjustment. Cyclosporine has been administered in doses of 2 to 5 mg/kg body weight with dose adjustments to achieve trough levels of 100 to 300 ng/mL,34,36,49 and tacrolimus has been administered at a starting dose of 0.5 to 1 mg daily and increased to 1 to 3 mg twice daily as tolerated to achieve a serum level of 3 ng/mL .34,35,38,49,276,279
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How To Go About Testing For Autoimmune Disease
Did you know that more than 24 million people in the United States are living with an autoimmune disease? These conditions can be devastating, causing pain, inflammation, fatigue, and much more. But how do you know if youre one of the people living with one of these conditions?
Testing for autoimmune disease can be challenging, to say the least. Read on to learn more about these conditions and how your doctor may go about determining if you have an autoimmune disease.
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Introduction And General Studies
There are general laboratory studies which can indicate the possibility of an underlying AID. These include the complete blood count , urine analysis , sedimentation rate , C-reactive protein , comprehensive metabolic panel , and muscle enzymes. In the CBC, we are looking for an anemia of inflammatory disease which can develop. In active inflammatory diseases, absorption of iron is limited and not distributed to the bone marrow resulting in a chronic anemia unless the inflammation is controlled. We also look for acute falls in hemoglobin and hematocrit, mainly seen in patients with systemic lupus erythematosus or Sjogrens Syndrome . They have developed autoantibodies to red cells. The most common cause of leukopenia and thrombocytopenia is due to an autoimmune disease with the development of anti-white cell and anti-platelet antibodies in these patients causing peripheral destruction.
Urinalysis as a screen is self-evident. Acidic pH, proteinuria, red cells, white cells, and red cell casts are all evidence of possible autoimmune renal damage. If the UA is abnormal, a 24-hour urine for creatinine clearance and total protein is ordered. If abnormal, a renal biopsy is indicated to determine etiology and possible therapy.
General inflammation is monitored by ESR and should be less than 15 mm/hr. CRP should be < 0.3 mg/dl and ideally < 0.1 mg/dl. Values out of this range may indicate a possible inflammatory process and need for further work up.1
What Is Autoimmune Disease
Before we get into the ways your doctor can test for an autoimmune disease, lets talk about what they are. Autoimmune disease is a class of different conditions, all of which impact how your immune system interacts with your body. Common autoimmune diseases include Crohns disease, lupus, rheumatoid arthritis, and ulcerative colitis.
If you have an autoimmune disease, your immune system gets confused and begins attacking your body. This can have an impact on almost any organ in your body, and in the case of some conditions, the attack may move from place to place on the body. Doctors arent yet sure why some bodies do this, although research is ongoing.
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What Are Seronegative Autoimmune Diseases
In autoimmune diseases, the immune system mistakenly attacks a person’s own cells and tissues. Seronegative autoimmune diseases lack the presence of autoantibodies. Autoantibodies are specific immune system proteins directed against a target found on a person’s cells.
Most people with autoimmune diseases have autoantibodies that can be detected through blood tests. These autoantibodies play a role in the development of autoimmune diseases and are used to help healthcare providers with the diagnosis.
With seronegative autoimmune diseases, symptoms are present along with other markers of the disease. However, there is a lack of autoantibodies, which may make diagnosis more challenging.
What Is Autoimmune Hepatitis
The liver is a large organ that sits up under your ribs on the right side of your belly . It helps filter waste from your body, makes bile to help digest food, and stores sugar that your body uses for energy. Autoimmune hepatitis occurs when your bodys infection-fighting system attacks your liver cells. This causes swelling, inflammation and liver damage.
It is a long-term or chronic inflammatory liver disease.
Autoimmune hepatitis is an autoimmune disease that occurs when the bodys immune system attacks the liver by mistake. The exact cause is unknown but believed to be due to a combination of genetic and environmental factors.
There is no one test to diagnose autoimmune hepatitis. The diagnostic process usually involves a physical exam, detailed history, lab tests, imaging studies, and a liver biopsy.
Verywell / Jessica Olah
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