Promoting optimal care for Sjogren's, a common, serious, systemic disease.
DELAYED & MISSED DIAGNOSES
Sjogren’s patients typically experience long delays in diagnosis. Timely diagnosis is essential for these reasons:
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Sjogren’s is a systemic disease that requires multi-specialty management. Long delays in diagnosis and treatment increase the risk for complications and progression (2, 3, 8).
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Low rates of diagnosis reinforce the misperception that Sjogren’s is rare. This creates a vicious cycle that further reduces the likelihood of diagnosis.
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Until patients are diagnosed in a timely manner, research about the benefits of early intervention cannot be studied.
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See Why is it so hard to get diagnosed? and MYTHS ABOUT DIAGNOSIS to learn how to advocate for diagnosis, especially if you are SSA-negative and/or do not fulfill the Sjogren's classification criteria.
What are typical delays in diagnosis?
For patients actively seeking diagnosis, the Sjogren’s Foundation (SF) has reported much improvement in the time to diagnosis, from a 6 year delay in 2012 to a 2.8 year delay in 2016.
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The true delay time is actually much longer, perhaps decades. True delay measures time to diagnosis from the onset of earliest Sjogren’s manifestations. There are no studies that examine when patients first experience symptoms. Many patients recall having mild or intermittent symptoms in their 20s and 30s, or even in childhood. Early treatment is probably key to better outcomes- but this rarely happens.
By age 14, I was having symptoms of what I now know of as xerotrachea.
This caused multiple infections and pneumonia. At age 19, I was diagnosed with severe dry eye and asthma, which now has been changed to bronchiolitis caused by Sjogren’s.
I lost my dream job in 1999 and sought a diagnosis for 16 years.
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I was finally diagnosed at age 41, a total of 27 years between initial, definite symptoms and diagnosis.
Many factors contribute to delayed diagnosis
1. PCPs and non-rheumatology providers are not trained to recognize Sjogren’s. Medical education falls flat.
I have learned first-hand from teaching 200-plus PCPs, OB-GYNS, and others that most of them think of Sjogren’s as a mild dryness disease, and not terribly important.
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The need for education remains great. An estimated 3-4 million people in the U.S. are living with Sjogrens, mostly undiagnosed (1). As of 2016, there was only one medical school in the US with an entire lecture dedicated to Sjogren’s. Until medical education treats Sjogren’s as the common, serious, systemic disease that it is, long delays in diagnosis will continue to be the norm.
"At age 42, I began to have dry eye symptoms, so I began to use artificial tear eye drops. When I went to an optometrist for an eye exam, I asked if it could have a systemic cause. He replied, no, I was just a woman getting old!"
2. There is no one test that reliably diagnoses Sjogren’s
This is a huge barrier to diagnosis. There are many false positive and false negative results with all of the common Sjogren’s tests. Sjogren’s is a clinical diagnosis that is supported by – but cannot be ruled out by – diagnostic tests. Even the lip biopsy, often called "the gold standard" is negative in a significant number of patients.
" While labial salivary gland histopathologic findings offer a high degree of specificity for SS, experience suggests that biopsy findings identify SS at more advanced stages of disease when gland damage has already occurred." ~ Beckman et al (15)
3. Fragmented health care system
A Sjogren's diagnosis usually requires collaboration between various medical specialties. Unfortunately, the current health care system operates with a “silo” mentality, instead of using a coordinated approach. Specialists tend to focus on their area of expertise rather than think about the big picture. Eye providers and dentists are often the first to see Sjogren’s evidence on exam, yet under-refer for systemic workups (35).
I saw doctor after doctor and the one thing I heard the most was, “I can only treat one symptom at a time so what is your worst symptom today?”
When I would try to point to the correlation between my symptoms, the doctor would dismiss me as a hypochondriac and then would not listen to anything else I had to say unless they could do a blood test for it or see it with their eyes.
4. Symptoms may overlap with other common conditions
Sjogren's should be considered as a possible diagnosis whenever any adult seeks diagnosis for ongoing, unexplained flu-like fatigue and widespread pain. This rarely happens. Instead, Sjogren’s patients report being told for years that they have functional disorders, "fibromyalgia," depression, or difficult menopause. These conditions may co-occur with Sjogren’s, and are frequently blamed for symptoms that are primarily caused by Sjogren’s. The disease often progresses for many years before a clinician considers an autoimmune diagnosis.
5. Sjogren's is a complex disease with a wide variety of presentations
Each Sjogren’s patient is unique. Varied presentations are the rule rather than the exception. Respiratory, GI, and neurologic symptoms are common early complaints. Patients with these presentations often fail to mention sicca, and clinicians usually fail to screen for sicca.
“Occult Sjogren’s” refers to the 20% - possibly more - of initial presentations that are not associated with sicca. Non-sicca presentations are particularly common with early neurologic or organ system involvement. Despite serious illness, diagnosis can be especially challenging for these patients because they may fail to meet Sjogren’s Classification Criteria for many years. Early diagnosis is essential to ensure timely treatment of potentially life-threatening complications in these patients (2, 3, 22).
6. Misclassification of the sickest patients
Diagnosis tends to be missed at both ends of the severity spectrum. Sjogren's patients with organ involvement or inflammatory arthritis tend to be misclassified as systemic lupus erythematosus (SLE) or rheumatoid arthritis (RA) (14, 23).
7. Lack of recognition of Sjogren's in the early phase of "typical" disease
Because there are no tools that reliably diagnose early Sjogren’s, the “pre-diagnosis” phase is not well understood. Early, milder sicca symptoms are easy for both patients and clinicians to overlook, especially when patients can function reasonably well. Overwhelming fatigue, pain, or systemic complications usually prompt patients to seek diagnosis. Menopause often unmasks Sjogren’s symptoms, which may account for the high rate of diagnosis of women in their 40s and 50s. According to the Sjogren's Foundation's 2021 Living with Sjogren's survey, "more than half of respondents believe thy had Sjogren's in early adulthood (<35) or childhood (<18).
I was 55 when all this happened and had just entered menopause. I think my physician thought I was a hysterical menopausal woman. I do think my age and sex played a role in not being taken seriously.
8. Gaping holes in basic research
Many basic questions about Sjogren’s have not been adequately researched. Because most people with Sjogren's remain misdiagnosed or undiagnosed, it is difficult to study a patient sample that represents the true spectrum of disease. Because sicca is overemphasized in diagnostic tests, the prevalence and characterization of the disease remains unclear. Research is urgently needed to improve time to diagnosis and provide a clearer picture of the landscape of the disease.
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Poor understanding of fatigue and cognitive issues (“brain fog”) remains a critical unaddressed challenge. These disabling, and sometimes debilitating symptoms are experienced by a large majority of patients. Clinical medicine has few tools to assess or treat fatigue and “brain fog.” These symptoms have a major impact on employment status, daily activities, social connections and overall quality of life (22, 25, 26, 27).
9. Timely Sjogren's diagnosis is not standard practice
A major incentive for clinicians to diagnose diseases in a timely manner is the standard of practice in the community. The importance of timely Sjogren’s diagnosis is not generally understood by clinicians.
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As a contrast, consider rheumatoid arthritis (RA), a connective tissue disease with a similar prevalence to Sjogren’s. Timely diagnosis and early, aggressive treatment have been shown by multiple studies to reduce disease progression, complications, and mortality. PCPs are usually well trained to recognize RA in its early stages, and tend to intervene quickly.
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While clinical data are limited, evidence increasingly points to a similar benefit of diagnosing and treating Sjogren’s early. (2, 3, 8) Yet a number of patients still report being told by their rheumatologist that the disease is not serious, or that it does not require treatment and ongoing specialty care.
10. No treatment guidelines available prior to 2015
The Clinical Practice Guidelines (CPGs), under the leadership of the Sjogren's Foundation, were developed to improve the quality and consistency of Sjogren’s care. These guidelines are meticulously researched and reviewed by a deeply experienced, multidisciplinary team of Sjogren’s experts. The first set of guidelines for rheumatology, oral care, and eye care were published in 2015.
Because the CPGs aren’t distributed in a centralized manner,
it’s important for patients not to assume that their doctors have seen the latest guidelines.
The CPGs are not included on the American College of Rheumatology (ACR) website.
Most U.S. rheumatologists look to the ACR as their primary source of guidance.
Patients are encouraged to provide copies of the CPGs to their practitioners.
11. Many rheumatologists are disengaged from Sjogren's care
Sjogren’s is difficult to diagnose, treat, and monitor. Response to treatment typically relies on a patient’s subjective reports, because there are no “joint counts” like RA or biomarkers that correlate with disease activity. Some rheumatologists prefer to focus on diseases that have more numerous clinical studies to back up their decision making.
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Treatments often do help, but results are rarely dramatic. This may be partly due to the fact that most patients are not diagnosed or treated in a timely manner. Patients understandably have expectations that more can be done, even though the medication “bag of tricks” is limited. Patients and their rheumatologists can work together with a broader view of disease management including, but not limited to, medications.
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Rheumatology expertise is important because good Sjogren’s care requires attention to many details. Rheumatologists should monitor patients for progression and complications. They can screen for organ system involvement and assess for lymphoma risk. Rheumatologists and/or PCPs should monitor for co-morbidities, including other connective tissue diseases. It is important that patients find a rheumatologist who is engaged, up-to-date, and interested in Sjogren’s care.
See this page to learn more about Sjogren's rheumatology care.
12. Gender bias: Women's reports of symptoms are often minimized
More than 90% of Sjogren’s patients are adult women. The impact of gender bias on clinical care is dramatic in this population.
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Both male and female patients typically see multiple doctors and experience long delays before getting a Sjogren’s diagnosis. However, women are more likely to be dismissed as complaining, stressed, or overly concerned about their health. This psychologizing of physical complaints is an extremely common experience that women have on the way to an autoimmune diagnosis.
Once a note is entered into the medical record suggesting a psychological component for physical symptoms, women tend to get “branded” with a psychological misdiagnosis. This label can stick long after the medical condition is diagnosed, as the patient story below illustrates. Labels such as “conversion disorder” or “hypochondriasis” may damage the patient's reputation, influencing how future doctors view the patient, often for years.
More commonly, clinicians use code words such as depression, anxiety or “medically unexplained symptoms” (MUS) to convey their opinion that an illness is largely caused by psychological factors. They often fail to consider that depression and anxiety are a normal response to undiagnosed, life-altering medical illness.
I had one doctor who saw me in an E.R. who looked at the cacophony of my medical history, and in spite of many seropositive blood results and positive MRI findings, decided to add Conversion Disorder to my diagnosis list. I spent months battling psychiatry referrals in the midst of suffering a CVA (stroke) in which I was administered tPA and never fully regained vestibular function. I filed a formal grievance, and the doctor left the practice, but I am still stuck with this black mark on my record that gives every new doctor pause about the legitimacy of my physical condition. I have to be overly cautious to not reveal any emotional weakness, lest I be pushed into a stigmatized role of a psychiatric patient.
Doing Harm by Maya Dusenbery, 2018 (28) is an excellent read about gender bias in medicine.
Updated 04-08-2024