Misdiagnosed & Undiagnosed: Expert Insights on the Autoimmune Diagnosis Process
Diagnosing autoimmune diseases is often a complex and challenging process because autoimmune diseases vary widely.
Identifying patterns and clusters of symptoms can help, but autoimmunity often relates to many factors including stress, deficiencies, toxic exposures, gut and immune dysfunction.
As such, autoimmunity has a tendency to go undiagnosed — or misdiagnosed.
Here, the Global Autoimmune Institute speaks with Dr. Francisco Contreras, Johannah Ruddy, M.Ed, and Dr. Henri Roca about the process of diagnosing autoimmune disease.
How does an autoimmune disease go undiagnosed – or misdiagnosed?
A conventional diagnosis of autoimmune disease often begins with a symptomatic patient.
Screening tests such as an Erythrocyte Sedimentation Rate (ESR) blood test, high-sensitivity C-reactive protein (Hs-CRP) test, or Anti-Nuclear Antibody (ANA) test may come back significantly elevated. When such tests return positive, additional tests may then be ordered to identify a specific antibody that is challenging the body’s system, and a diagnosis may be given. Sometimes, a diagnosis may also be given simply based on an X-ray.
However, Dr. Roca, a family medicine physician at Palm Health in Missouri, explains that frustration often occurs when test results come back normal – or only slightly elevated, even though a patient may be feeling unwell. Symptoms may include aches, inflammations, mind fog, trouble with the digestive system, joint pain, or just general malaise.
What are the main barriers to receiving a correct diagnosis?
Autoimmune diseases can manifest with a wide range of symptoms that may be atypical or overlap with other conditions.
“This overlap can lead to misinterpretation or misdiagnosis,” says Contreras, director and president at Oasis of Hope Medical Institute.
Contreras notes that some healthcare professionals may have limited awareness or experience with certain autoimmune conditions and may not be able to identify specific symptoms.
“This lack of familiarity can hinder the recognition,” he says, which is particularly true for “conditions where clinical evaluation plays a significant role.”
Likewise, Roca says physicians frequently don’t listen to patients in the early stages of illness. Focusing exclusively on a diagnosis can be detrimental, too.
“Sometimes, people wait a long time while they are smoldering and feeling poorly – and they have to wait even longer until they get sufficiently ill to earn a diagnosis,” Roca says.
He urges intervention at an early stage.
“Early on in the process, a lot of folks will recognize that something is creating inflammation or producing a tendency toward autoimmunity, but they’ll wait until it’s flaring to act,” he says.
What can you do to receive better care during the diagnostic process?
If initial tests yield inconclusive results or if symptoms persist despite a negative diagnosis, patients should actively engage with healthcare providers to explore further options.
Ruddy, co-author of “Gut Feelings: Doctors and Patient-Centered Care,” notes that it’s important to remember that not everyone can grasp the complexities of autoimmune diseases.
If someone refuses to understand or empathize with your situation, it may be time to move on.
“It’s always best to surround yourself with people who have your best interests at heart and are supportive of you,” she says.
Likewise, it’s important to customize strategies, build a strong support network, stay informed, and actively participate in the healthcare journey.
Autoimmune diseases are particularly known for flare-ups, which can happen unexpectedly and disrupt daily life.
“To manage such situations, it is important to work with your healthcare team to create a plan,” Ruddy says.
Roca reminds patients that healing takes time.
¨Inflammation and autoimmune diseases are an ongoing process,¨ he says.
The importance of seeking a second opinion is also unanimous.
“A fresh perspective may lead to alternative interpretations or diagnostic approaches,” Contreras says.
