‘My own diagnosis was delayed’: Sjögren’s myths overshadow multi-system manifestations
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Key takeaways:
- Multi-system manifestations of Sjögren’s disease are common, but often overlooked.
- Medical education on Sjögren’s is relatively sparse and riddled with misconceptions.
Despite being one of the most prevalent autoimmune diseases in the United States, Sjögren’s disease remains shrouded behind significant misconceptions and knowledge gaps that can delay diagnosis and appropriate treatment.
The condition is often associated with dryness, or sicca, in the eyes and mouth. However, when those symptoms appear, they are almost always accompanied by broader-scale impacts that are more difficult to recognize — a fact that can often go unappreciated by some providers, according to Sarah Schafer, MD, a public health physician and advocate based in the San Francisco Bay area.
Schafer herself was diagnosed with Sjögren’s disease at 52 years after more than two decades of increasingly debilitating symptoms. She now works to spread the most up-to-date information about the disease through her website, Sjögren’s Advocate, and the social media website X (formerly Twitter). Schafer has also served as a patient representative on the Sjögren’s Foundation consensus panel for three sets of Sjögren’s Clinical Practice Guidelines, and has educated primary care clinicians in her area to help them recognize Sjögren’s as more than just a mild sicca disease.
“My own diagnosis was delayed because of limited clinician awareness and misconceptions about the disease,” she told Healio. “Despite clear evidence that Sjögren’s is a prevalent, multisystem disease, it remains neglected by the medical field.”
Healio spoke with Schafer to learn more about the most common Sjögren’s misconceptions and what clinicians should keep in mind when managing this disease.
Healio: What are the key misconceptions about Sjögren’s disease that rheumatologists should know about?
Schafer: Sjögren’s is often incorrectly viewed as a rare, mild sicca — ie, dryness — disease of middle-aged women. This leads to underdiagnosis and suboptimal care. Sjögren’s is a serious disease associated with excess mortality, both from systemic involvement and comorbidities such as cardiovascular disease.
Sjögren’s is never just sicca. Thorough evaluations consistently reveal systemic manifestations in nearly all patients. However, time, training and resource constraints hinder comprehensive assessments.
The best snapshot of systemic manifestations comes from a 2014 study of nearly 1,000 Spanish patients. In this prospective study, 70% to 80% of patients with Sjögren’s disease exhibited at least one EULAR Sjögren’s syndrome disease activity index (ESSDAI) feature at presentation. This number rose to more than 90% after 6 years. Even these high figures underestimate systemic involvement, as the ESSDAI does not encompass the entire spectrum of systemic manifestations.
Even though Sjögren’s has a similar prevalence to rheumatoid arthritis, impacting about 1% of the U.S. population, more than half remain undiagnosed. About half of patients can point to symptoms starting in childhood or early adulthood. Men are more likely to experience life-threating manifestations but face barriers to diagnosis because Sjögren’s is often viewed as a “women’s disease.”
Lung disease often remains undetected for years, despite affecting a large portion of patients. Small fiber neuropathy and/or autonomic disorders impact at least half of people with Sjögren’s, but symptoms are frequently dismissed as anxiety or functional disorders.
Healio: Why do you refer to this condition as Sjögren’s disease and not Sjögren’s syndrome? What’s the importance of this distinction?
Schafer: Sjögren’s is a well-characterized autoimmune rheumatic disease, not a vague syndrome. The medical community is increasingly using “Sjögren’s disease.” This shift, reflected in the 2024 International Symposium on Sjögren’s Disease name change, underscores the reality of this serious multisystem disease.
Referring to Sjögren’s as a “syndrome” trivializes its often life-altering impact. Sjögren’s is a distinct disease, not “secondary,” even when it occurs alongside another autoimmune disease.
Healio: Why do myths and misconceptions about Sjögren’s persist?
Schafer: Inadequate medical education is the most important, and addressable, reason that Sjögren’s is misunderstood and neglected. Sjögren’s education is rare; only one primary care clinician of more than 200 I have taught had ever attended a lecture on Sjögren’s disease. Only a handful of CME programs have ever been offered. This sends the message that Sjögren’s is unimportant.
Inconsistent messages about Sjögren’s lead to confusion. CME lecturers often overemphasize the role of classification criteria in diagnosing Sjögren's, disregarding the many patients who do not meet these criteria. Despite undeniable evidence that Sjögren’s is a systemic disease, presenters, academic websites and journal articles often underestimate its systemic impact, claiming that only 40% to 50% of patients experience systemic manifestations.
Also, there is no clear standard of Sjögren’s care. The American College of Rheumatology is not a reliable standalone resource for Sjögren’s information. The absence of Sjögren’s Clinical Practice Guidelines on the ACR website hinders widespread awareness among rheumatologists. The ACR’s new Rheumatology for Primary Care Sjögren’s section contains multiple errors, starting with calling it “Sicca/ Sjögren’s Disease,” which reinforces the “Sjögren’s equals sicca” myth. Lung disease is described as rare — it is not — and only lymphocytic interstitial pneumonia is mentioned.
Non-specific interstitial pneumonia, not lymphocytic interstitial pneumonia, is the most prevalent form of interstitial lung disease in Sjögren’s; multiple other types of Sjögren’s lung disease are not acknowledged.
Fortunately, the Sjögren’s Foundation offers excellent up-to-date information and clinical practice guidelines, drawing on the expertise of distinguished Sjögren’s experts from a wide variety of specialties.
Healio: How can the field come to a better understanding of the disease? What should change?
Schafer: Sjögren's must be integrated into medical curricula and CME programs with a specific focus on dispelling common misconceptions. Primary care practitioners need training to recognize the diverse symptoms of Sjögren’s beyond dry eyes and mouth.
The classification criteria must be updated to reflect the multisystem nature of Sjögren’s. The criteria should incorporate systemic features such as parotid enlargement, dysautonomia, cytopenias, etc., that support a diagnosis in the absence of sicca.
Formal guidelines for routine monitoring of Sjögren’s should also be created to establish a baseline minimum standard of care. Every patient, regardless of symptoms or serostatus, should be monitored for a wide variety of systemic manifestations and comorbidities.
Rheumatologists need access to Sjögren’s-knowledgeable neurologists, gastroenterologists, pulmonologists and others. These are not always available.
Furthermore, training for gastroenterologists and neurologists should encompass the management of autonomic disorders, which often profoundly impact quality of life. Specialized care can offer significant relief.
Healio: What value may rheumatologists receive from your website?
Schafer: Despite promising treatment advancements, the full potential of new therapies will be limited by the high rates of undiagnosed Sjögren’s disease. Sjögren’s Advocate challenges rheumatologists to reassess diagnostic practices and reconsider misconceptions that stand in the way of early and comprehensive care.
Sjögren’s Advocate is not medical advice or a substitute for your expertise. All Sjögren’s Advocate information is meticulously researched and backed by citations and links to source materials. This transparency allows you to verify the information for yourself and feel confident in its accuracy. User-friendly navigation, with dropdown menus and search bars, makes it easy to find this vital information.
Patients should be able to count on their doctors, especially rheumatologists, to be knowledgeable about a highly prevalent, multisystem disease. Routine monitoring for a wide range of systemic manifestations and comorbidities is essential for all patients, regardless of symptoms. Sjögren's Advocate empowers patients to partner with clinicians for timely diagnosis and effective disease management.
Healio: How have rheumatologists responded to your work on Sjögren’s? What are some of the usual reactions?
Schafer: Most rheumatologists discover Sjögren’s Advocate through their patients. Reactions vary from interest and enthusiasm to indifference. Occasionally, a rheumatologist will dismiss Sjögren’s Advocate information without looking at it, or even scold patients for using “Dr. Google.” This can be traumatic for patients desperately seeking diagnosis and treatment.
I understand the skepticism health care providers may have about online resources. However, Sjögren’s Advocate is not a wellness platform, but an evidence-based resource designed to support both patients and clinicians. A review of the website will dispel any misconceptions about its purpose.
References:
Ramos-Casals M, et al. Rheumatology (Oxford). 2014;doi:10.1093/rheumatology/ket349.
Brito-Zerón P, et al. EClinicalMedicine. 2023;doi:10.1016/j.eclinm.2023.102062.
“Living with Sjögren’s,” The Sjögren’s Foundation; published March 31, 2022. Accessed Aug. 27, 2024.
“Rheumatology for Primary Care,” The American College of Rheumatology.
Sjögren’s Advocate: https://www.sjogrensadvocate.com/
The Sjögren's Foundation: https://sjogrens.org/
For more information:
Sarah Schafer, MD, can be reached at info@sjogrensadvocate.com; X (Twitter): @SarahSchaferMD. Her website can be viewed at www.sjogrensadvocate.com.
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