Extreme fatigue. Joint pain and inflammation. Brain fog.
These are just some of the common symptoms that are emblematic of the 100+ autoimmune conditions identified by the American Autoimmune Related Diseases Association (AARDA). AARDA estimates that 50 million Americans are living with at least one autoimmune disease.
75% of people with an autoimmune disease are women, and these diseases are now a top 10 cause of death for American women.
The body's immune system is designed to protect itself from disease and infection. The highly-tuned network works quickly to identify invaders, like bacteria and viruses, and eliminate the threats in an effort to keep the body healthy.
However, for people with autoimmune diseases, the immune system mistakenly attacks healthy cells, tissues, and organs rather than foreign invaders. This results in inflammation and damage throughout the body and a range of symptoms depending on the source of the damage.
Doctors and researchers are not sure what causes autoimmune diseases. New research studies are helping to expand our understanding of risk factors.
There are both genetic and environmental components involved in the development and onset of these diseases. However, potentially relevant genetic pathways and environmental triggers vary by disease and by person.
Getting diagnosed can be a long and challenging process. While autoimmune diseases have unique characteristics, many of the observable symptoms, like fatigue and pain, overlap with more common conditions. As a result, clinicians work to rule out other health conditions before considering an autoimmune disease diagnosis.
Additionally, laboratory tests are still being developed to test for specific autoimmune diseases. Current best practices, including antinuclear antibodies (ANA) tests, measure for the presence of a generic type of antibodies. But, they can't confirm the presence of an autoimmune disease.
Also, autoimmune diseases follow a waxing-and-waning disease path, meaning that symptoms will come and go over time as the underlying disease activity level changes. By the time you get in to see your clinician, it’s possible your symptoms will have abated.
For a complete list of the known autoimmune diseases, check out this list maintained by AARDA.
Beyond anecdotal evidence about the difficulties with getting a lupus diagnosis, LupusCorner conducted a poll of over 100 people. 35% of people reported seeing 6 or more doctors before being diagnosed. Only 14% of people were diagnosed by their original doctor.
And, those visits often occur over a long period of time. Research published in 2015 found that, on average, 3.5 years passed from the first time a person sought medical help for autoimmune symptoms to the time of their diagnosis.
As is common in autoimmune diseases, there is no single laboratory test that can determine if a person has rheumatoid arthritis (RA). A rheumatologist will consider a person's medical history, family history, inflammation levels, blood tests, and other relevant information to make a diagnosis.
In a poll conducted by RACorner, over 58% of people eventually diagnosed with RA had to spend over 6 months in pursuit of a diagnosis. This finding was similar to a research finding. Additionally, the study reported that the median time from symptoms to diagnosis for RA was 36 weeks.
Diagnosing multiple sclerosis (MS) presents its own challenges because there are many possible causes for neurological symptoms. As the National Multiple Sclerosis Society shares: "While this process of exclusion may be very rapid for some individuals, it can take a much longer time — with repeat testing — for others."
In addition to a review of a person's medical history and blood tests, there are additional tests that must be evaluated to determine if a person has MS. These tests include magnetic resonance imaging (MRI), cerebrospinal fluid (CSF) tests, & evoked potential (EP) tests.
Also known as crest syndrome, scleroderma is a hardening and tightening of the skin and connective tissue. It is estimated to impact 300,000 Americans with about ⅓ of those individuals experiencing a systemic form of the disease.
Getting diagnosed with scleroderma often requires a consultation with a rheumatologist, a dermatologist, and laboratory tests to evaluate systemic complications. Scleroderma’s onset is most common between the ages of 25-55 and female patients outnumber male patients 4:1.
Polymyositis is characterized by chronic muscle inflammation and weakness, particularly marked weakness in the thighs, shoulders, hips, neck, and back. This weakness can make it hard to walk, causing falls and an inability to get back up. It can also be accompanied by a chronic dry cough and challenges with swallowing.
Symptoms of polymyositis typically develop slowly over weeks or months. And, the condition is commonly associated with other autoimmune diseases like lupus, RA, and Raynaud’s phenomenon.
Sjögren’s syndrome impacts more than 200,000 people in the United States. This autoimmune disease is characterized by dry eyes and dry mouth because the body’s immune system attacks the healthy cells that create tears and saliva. Additional systemic issues can occur when the inflammation attacks other parts of the body including the joints, thyroid, kidneys, liver, lungs, skin, and nerves.
Many people with Sjögren’s syndrome experience dental cavities, yeast infections, and vision problems as a result of the diseases.
Also known as Raynaud’s Phenomenon, this autoimmune disease causes the constriction of small arteries in the body, particularly when exposed to the cold. This limits the flow of blood and oxygen to the extremities commonly resulting in numb and cold fingers, toes, and ears. The lack of blood flow also leads to extreme discoloration of the affected extremities and throbbing sensations when blood flow does return.
Mixed Connective Tissue Disease, or MCTD, is a rare autoimmune disease made up of symptoms from a combination of three other autoimmune diseases: lupus, scleroderma, and polymyositis. Symptoms in the hands are often an early sign of MCTD, including discoloration, lack of blood flow, and joint pain. MCTD is most common among women under 50 years old.