Experts Discuss the Complex Path to an Autoimmune Diagnosis

Global Autoimmune Institute

Pinpointing the cause of symptoms is a key issue faced by those with or without an autoimmune diagnosis. Autoimmune disease manifests in various ways, affecting different organs and systems within the body. As such, many individuals undergo a prolonged period of inconclusive investigations without treatment.

Here, The Global Autoimmune Institute speaks with Francisco Contreras, MD; Johannah Ruddy, M.Ed; and Henri Roca, MD, about autoimmune onset and diagnosis.

What is the typical length from autoimmunity onset to diagnosis?

Since symptoms can manifest in a variety of ways, the timeline for receiving an autoimmune diagnosis from the onset of symptoms can vary widely.

For example, autoimmune disease often presents with non-specific symptoms, such as fatigue, joint pain, or gastrointestinal issues, which are characteristic of many disorders.

“On average, the diagnostic process may take several months to years,” says Contreras, director and president at Oasis of Hope Medical Institute.

“Early consultation with a specialist, thorough communication of symptoms, and expedited testing can sometimes lead to a more prompt diagnosis.”

He recommends scheduling an appointment with someone such as a rheumatologist or immunologist, in addition to a general practitioner or a physician dedicated to functional medicine.

“They possess the expertise to navigate the complexities of these diseases and can conduct a thorough evaluation,” he says.

Different autoimmune diseases present the possibility of truncated or extended timelines, too.

For example, multiple sclerosis may worsen over time, while Crohn’s disease may have pronounced flares.

“It’s important to recognize the uniqueness of each case. Our goal is to extinguish the proverbial fire; you can’t just suppress symptoms within a set time frame.”
Francisco Contreras, MD

Likewise, Roca, a family medicine physician at Palm Health, says that a timeline alone is not the only factor that should be considered.

How should an individual proceed without an autoimmune disease diagnosis?

Navigating the healthcare system, obtaining referrals, and coordinating appointments can be overwhelming.

In the absence of a diagnosis, patients should continue to communicate their concerns.

Ruddy, co-author of ¨Gut Feelings: Doctors and Patient-Centered Care,¨ notes that it is critical for patients to advocate for themselves and consistently convey symptoms to healthcare providers.

“I recommend keeping a detailed health record, asking for a patient advocate within the hospital system if needed, and utilizing online tools or apps to manage appointments and information,” she says.

Roca says this is often the stage when frustrations occur. Patients with test results that are only slightly elevated and non-diagnostic are told that they’re fine, even though they still may be feeling ill. ¨If any tests come back even slightly abnormal, though we may not be able to give a definitive diagnosis within the framework of conventional medicine, we´ll work with patients to figure out how we can help,¨ he says.

What should you convey to a provider?

While it may be frustrating not to have a specific diagnosis, Roca urges patients to consider the entirety of their mental and physical health, well-being, and medical history.

He notes the importance of factors such as lifestyle, dietary habits, and occupational exposures, in addition to genetics.

¨For us, a patient’s history is very important because with it, we can create a hypothesis for the individual and say which biological functions are not working as well as we’d like, both mental and physical, without distinction,¨ he says.

For example, autoimmunity in the gut can manifest in the head.

¨There is no diagnosis that exists outside the complexity of the human being,¨ Roca says.

Can diagnostic tests change over time?

Repeat testing is a good way to approach autoimmune diagnoses because diseases can manifest over time.

A patient should advocate for comprehensive testing.

“Periodic reevaluation can provide a more dynamic understanding of your health and may capture changes that were not initially apparent. Even if initial tests appear normal, some autoimmune diseases may not present with clear markers,” Contreras says.

However, Roca says that one key is to avoid thinking only in terms of ¨treatment¨ and ¨diagnosis.¨

¨When it comes to autoimmunity, the diagnosis is not the only endpoint, even though that’s how many are trained to think,¨ he says.

In his view, it is important for a physician to address the underlying factors and symptoms contributing to an autoimmune condition, even before a patient has a formal diagnosis.

How should you address the stress that often accompanies the diagnostic process?

According to Ruddy, it’s important to acknowledge and address emotions by seeking support from friends, family, or support groups.

Living with a chronic illness can be emotionally challenging.

She also believes therapy can be particularly helpful. “If needed,” she says, “consider therapy with a professional who specializes in chronic illness to address the emotional aspects of the illness journey.”