One Screening Panel Aims to Shorten the Search for an Autoimmune Diagnosis

For people living with Sjögren’s disease, getting an answer can take months or even years. The symptoms, which can include dry eyes, dry mouth, joint pain, fatigue and rashes, often lead patients to an eye doctor, a dentist and a primary care provider, each treating one piece of the puzzle.

“They might go to a multitude of different providers that are treating one or two symptoms, but no one’s ever really piecing them together,” said Veena Joy, Ph.D., M.Sc., U.S. lead for strategic partnerships in allergy and autoimmunity at Thermo Fisher Scientific.

Joy spoke with The Educated Patient about why Sjögren’s and related connective tissue diseases are so easy to miss, and how the company’s EliA CTD 13 Screen aims to give clinicians a clearer and broader starting point.

Symptoms that point in too many directions

Because the symptoms overlap with so many other conditions, even clinicians can struggle to connect them, Joy said. Putting all of the symptoms together doesn’t necessarily make the picture clearer, since the combination could still point to several different diseases.

Most people with autoimmune disease are women, which adds another layer. Symptoms are often inaccurately attributed to hormonal changes, perimenopause or menopause and placed in that one bucket. When that happens, additional testing doesn’t take place, the disease continues to progress and the patient keeps moving from clinician to clinician in search of an answer.

Many of these patients are first seen in primary care or OB-GYN offices. Those clinicians see many people with similar symptoms, and because autoimmune disease is less common, it may not be the first possibility they consider.

Narrowing the search with one screening panel

Testing for connective tissue disease has typically started with an antinuclear antibody (ANA) test and other general inflammatory markers. ANA testing can return a pattern or titer that doesn’t point to any single disease, and in primary care this often leads to a referral without much direction, Joy said. ANA testing is also highly sensitive and can lead to many false positives, particularly within primary care.

The EliA CTD 13 Screen tests for 13 clinically specific targets linked to Sjögren’s, lupus, systemic sclerosis and other autoimmune diseases. If the screen is positive, the lab can automatically reflex or run follow-up tests for the individual disease-specific markers. With that approach, Joy said, “you’re not really playing a guessing game of which marker is positive.”

This higher level of specificity gives primary care clinicians a better basis for deciding who needs a rheumatologist, and gives the specialist a fuller picture of lab results to weigh alongside symptoms and history to make a final diagnosis. Joy said the company developed the panel to expand the testing options available to laboratories, since there is no one-size-fits-all approach across different patient populations.

Why timing matters

Joy noted that not every patient will test positive for a marker. For those who do, an earlier answer can mean more accurate referrals and shorter waits to see a specialist, while patients who don’t need a rheumatologist can continue their care in primary care.

“These diseases are progressive,” she said, adding that “the sooner you provide therapy, the more effective that therapy is going to be.”

Lab testing is sometimes seen as a commodity, she said, but it is often the starting point for a patient’s entire diagnostic journey. A negative result is valuable too, because it helps clinicians rule out autoimmune disease and look elsewhere.

Advocating for yourself

For patients who keep hitting dead ends, Joy recommends writing down the full journey: which providers they’ve seen, what symptoms each one addressed and what tests have been done. Medical records don’t always transfer between offices, and some patients may have had only general inflammation tests, such as C-reactive protein (CRP) or erythrocyte sedimentation rate (ESR). A complete picture can help a clinician suspect autoimmune disease and order more specific testing.

She also encouraged patients to ask directly whether their symptoms could be connected and whether autoimmune disease has been considered. In her experience, most physicians are open to hearing that perspective from patients.

“Don’t be afraid to be bold and ask the question,” she said.