All Autoimmune Tests

How familiar are you with autoimmune diseases? 

Your body’s immune system naturally helps fight against harmful bacteria and other foreign substances. This natural response revolves around antibodies and specific immune cells. Autoimmune diseases occur when your body’s immune system fights against normal constituents, instead of harmful bacteria and other foreign substances. It has everything to do with your immune system failing to discern between “self” vs. “non-self” constituents.  This failure to discern may produce immune cells or antibodies (or auto-antibodies) that target the body’s own cells, tissues, and/or organs.  These attacks cause inflammation and tissue damage that result in autoimmune disorders. 

Over 80 diseases have been classified as resulting from autoimmune responses, and there is evidence to suggest that there are 40 other diseases that may have an autoimmune basis.

According to the National Institutes of Health, nearly 24 million people in the US suffer from autoimmune disease. While the majority of these diseases are, in fact, rare, the number of people suffering from them continues to rise. These diseases affect women on a larger scale than men. In the case of Lupus, women are ten times more likely to be affected.

Medical professionals are unaware of what causes most autoimmune diseases, save for the fact that genetic predisposition seems to play its part. There are some autoimmune diseases, like rheumatic fever, where a virus or bacterial infection is what leads to the confused immune response. T-cells are antibodies and immune cells that attack good cells.  The T-cells misidentify the good cells as the microbes that are infecting the body.

There are two main types of autoimmune diseases, systemic and localized. The systemic autoimmune diseases are disorders that lead to multi-organ damage. In contrast, the localized autoimmune disorders lead to direct damage to a single organ or tissue. The lines can be blurred between the two types; however, as medical professionals point out that the damage caused by localized autoimmune disorders often indirectly impacts other organs and systems in the body.

There are also instances where certain autoimmune diseases do not cause antibodies to attack a particular organ or tissue but rather a certain type of cell. One example involves anti-phospholipid antibodies and how they attack regular platelet phospholipids. This happens inside blood vessels, and the event can lead to improper blood clot formation and thrombosis.

Autoimmune diseases aren’t always easily recognizable either, especially systemic disorders. Multiple symptoms that frequently change in severity can leave doctors searching for a diagnosis for an extended period of time. Any vague and slow to develop signs and symptoms, although present, can also serve to be misleading to medical professionals. There are a variety of symptoms that stem from the various autoimmune diseases, including joint pain, fever, and fatigue. Many people also report a feeling of generally being unwell.

Which lab tests are used to detect autoimmune disorders depends on which disease a medical professional suspects to be the culprit. Blood tests are commonly used for diagnosis because doctors need to know what autoantibodies are in attack mode. Two inflammation tests, CRP (or C-reactive protein) and ESR (or erythrocyte sedimentation rate), are also commonly used in diagnosis. Sometimes a person may have more than a single autoimmune disease.  As examples, individuals who suffer from Addison disease often are type 1 diabetics, and people with sclerosing cholangitis often suffer from ulcerative colitis.

Below is a list of several of the more well-known autoimmune diseases. You can also find out additional information from the AARDA (American Autoimmune Related Diseases Association) about these diseases and more.

• Addison Disease
• Antiphospholipid Syndrome
• Autoimmune Hepatitis
• Celiac Disease
• Graves’ Disease
• Guillain-Barre Syndrome
• Hashimoto Thyroiditis
• Inflammatory Bowel Disease
• Multiple Sclerosis
• Myasthenia Gravis
• Pernicious Anemia
• Primary Biliary Cirrhosis
• Sclerosing Cholangitis (see Autoimmune-associated Liver Diseases)
• Reactive Arthritis
• Rheumatoid Arthritis
• Juvenile Rheumatoid Arthritis
• Sarcoidosis
• Scleroderma
• Sjögren Syndrome
• Lupus (Systemic Lupus Erythematosus or SLE)
• Type 1 Diabetes
• Vasculitis

Sarcoidosis is a medical condition caused by immune system cells clumping together to form lumps called granulomas. Granulomas can develop in any part of the body, but the most common (and serious) sites where they form are in the lungs, eyes, lymph nodes, and skin. Granulomas often disappear on their own within two to three years. Sometimes, though, granulomas clump together. When this occurs in an important organ, it can cause it to become inflamed. If the granulomas persist for long enough, they can impede the function of the organ and cause fibrosis, that is, permanent scarring. 

The precise cause of sarcoidosis is not well understood. Many risk factors are believed to contribute to the disease, including genetic predisposition, immune system overreactions when exposed to bacteria or viruses, and environmental triggers like chemicals and allergens. 

Sarcoidosis occurs in people of all ages and communities, but sufferers are most commonly over the age of 55 and of Northern European or African descent. In the United States, African American women are the demographic group most often diagnoses with sarcoidosis. The US reports more than 25,000 new cases of sarcoidosis per year. 

The severity and duration of sarcoidosis vary from patient to patient: 

• You may have sarcoidosis without ever noticing symptoms. Mild cases may cause non-specific symptoms that are easily mistaken for other conditions. 
• You may experience an acute case of sarcoidosis which resolves on its own within a few years. This is called “remission.” Acute sarcoidosis may or may not return in the future. 
• You may have chronic sarcoidosis, growing worse over time. 

The National Heart Lung and Blood Institute reports that half of all sarcoidosis sufferers will go into remission within three years of being diagnosed. At 10 years after diagnosis, two-thirds of sufferers will be in remission. 

Sarcoidosis does not cause long-term health effects for most sufferers. However, about one-third of those with the disease will experience organ damage to some extent. People who suffer sarcoidosis in their lungs or hearts may experience severe consequences, including death. Sarcoidosis can, on rare occasions, cause blindness. 

Symptoms  

The symptoms you may experience with sarcoidosis vary widely in type and severity. The specific tissues and organs affected by the disease matter and symptoms can change over time. Some people with sarcoidosis experience no symptoms at all. Some symptoms are very similar to those caused by other health conditions.

Examples of these include: 

• Fever 
• Weight loss 
• Fatigue 
• Loss of appetite 
• Night sweats 
• Swollen and/or painful joints 
• Swollen lymph nodes 

The symptoms may be different, depending on which organs are affected: 

The Lungs 

According to the American Lung Association, up to 90 percent of all sarcoidosis cases affect the lungs. Sarcoidosis symptoms in the lungs tend to worsen over time as scar tissue forms, and the lungs become stiff. Common symptoms include: 

• Dry coughing 
• Shortness of breath 
• Wheezing or strained breathing 
• Pain, tightness, or discomfort in the chest 

The Skin 

Skin issues occur in roughly one-quarter of all sarcoidosis cases. Signs and symptoms include: 

• Sores appearing on the cheeks, nose, eyelids, and ears 
• Bumpy rashes on the ankles or shins — these appear reddish and raised, and may feel tender, warm, or itchy 
• Inflammation and raised skin around scars 
• Skin discoloration 

The Eyes 

Symptoms that affect the eyes include: 

• Light sensitivity 
• Blurred vision 
• Pain or itching 
• Excessive tears 
• Red or burning eyes 
• Inflammation 

The Heart 

Symptoms that are common when the heart is affected include: 

• Abnormal heart rhythm 
• Chest pain 
• Rapid heartbeat 
• Symptoms like congestive heart failure, including shortness of breath, coughing, wheezing, and swollen legs and ankles. 

The Nervous System 

Symptoms affecting the nervous system and brain include: 

• Headaches 
• Seizures 
• Loss of coordination 
• Fatigue 
• Tremors 

Skeleton and/or Muscles 

If sarcoidosis granulomas occur in the bones or muscles, they may cause pain and/or joint stiffness. 

Other symptoms 

May also cause the following effects: 

• Swollen salivary glands 
• Enlarged liver 
• Enlarged spleen 
• Kidney stones 
• Kidney failure (rare) 

Testing

Testing for sarcoidosis involves determining which tissues are affected as well as accurately diagnosing the disease. Tests are also used to gauge the severity of the disease and monitor its progress. It’s also important to rule out other conditions that may cause similar granulomas. These include tuberculosis and certain fungal infections. 

Lab Tests 

• ACE (Angiotensin Converting Enzyme) This test is useful for diagnosing Sarcoidosis and monitoring both the progress of the disease and its response to treatment. Sarcoidosis causes elevated ACE levels, but other conditions can also have this effect. Examples include diabetes, hyperthyroidism, tuberculosis, and fungal infections. 
• Liver Panel or CMP (Comprehensive Metabolic Panel) This is a battery of tests that assess the function of the liver and or kidneys. They can tell if those organs have been damaged by the disease. 
• CBC (Complete Blood Count) This test may be ordered to evaluate red and white blood cells. 
• C-Reactive Protein (CRP) A key test to detect inflammation. ESR (Erythrocyte Sedimentation Rate) testing may be used as an alternative. 
• Calcium Elevated calcium levels in the blood or urine may be a sign of sarcoidosis. This is because the granulomas produce vitamin D, which increases calcium absorption in the intestines. 
• Vitamin D A vitamin D test is often used as a follow-up if elevated calcium levels are detected. 
• Cerebrospinal Fluid (CSF) Analysis This test may be used to confirm or deny sarcoidosis in the brain or nervous system. 
• AFB Testing, Sputum Cultures, Fungal Tests These are all used to rule out other conditions that may cause signs and symptoms like sarcoidosis.