12 Reasons People With Sjogren's Don't Get Diagnosed
Updated: Nov 15
Most people with Sjogren’s remain undiagnosed. While having more accurate tests would help, this blog post focuses on the barriers to diagnosis that can be addressed right now. I use my own story to highlight how the lack of clinician awareness about Sjogren’s contributes to long delays in diagnosis.
Reason # 1: There is a lack of routine medical education about Sjogren’s. This is the most significant (and fixable!) reason that many clinicians are not familiar with the disease or how to diagnose it.
Sjogren’s is a serious systemic disease that is often misperceived as being an unimportant dryness disease. In my experience teaching over 200 primary care clinicians, not one had ever considered Sjogren's as a possibility in patients with multisystem complaints and/or disabling fatigue. Yet, this is how Sjogren’s typically presents in the primary care setting. This is because most of them are taught that Sjogren's is rare, unimportant and mild. This needs to change!
Reason # 2: People with Sjogren's typically seek diagnosis for systemic symptoms, not because they have sicca (234). Because few clinicians are rarely trained to recognize typical presentations, they often don't think to ask about the presence of sicca (dryness) (234) Sicca symptoms may be absent early on, or subtle, or not perceived by the patient as dryness. Whil)e not everyone with Sjogren’s has sicca, it can be a helpful clue that Sjogren's should be considered. In my 30s, I developed gastrointestinal (GI) pain and dysmotility, recurrent sinus infections, and oral sicca on top of well-documented dry eye disease (sicca). However, my doctors did not look at my symptoms as a whole and instead focused on each symptom individually. I was told I had irritable bowel syndrome (IBS) and fibromyalgia, which are common misdiagnoses for people with Sjogren’s. Reason # 3: Many eye doctors lack awareness about Sjogren's. Dry eye disease (eye sicca) is a common early sign of Sjogren’s. It takes 10 years, on average, from the diagnosis of dry eye disease to the diagnosis of Sjogren’s (69). At age 18, I was diagnosed with erosions on my corneas caused by severe dryness. During my 20s and 30s, I saw multiple ophthalmologists for this problem, but none of them asked about other symptoms. If they had, they would have learned that I had the classic Sjogren's triad of fatigue, pain, and dryness.
Reason # 4: Many clinicians, including rheumatologists, are not aware that small fiber neuropathy (SFN) and dysautonomia are common neurological manifestations of Sjogren’s. People with SFN and dysautonomia are more likely to be SSA-negative and less likely to have sicca, which can lead to long delays in diagnosis (178, 180, 202).
During my 20s and 30s, I developed symptoms of small fiber neuropathy (SFN) and postural orthostatic tachycardia syndrome (POTS), a type of dysautonomia. Neither condition was diagnosed until my mid-50s, when the symptoms became severe. SFN and dysautonomia should support a diagnosis of Sjogren’s in people with other signs or symptoms of the disease (164), but few clinicians know about the connection.
Reason # 5: The long and varied symptoms of Sjogren's can make it difficult for both patients and clinicians to see the big picture. People often only seek a diagnosis when the disease suddenly worsens, and they may not mention sicca and other long-standing symptoms because they seem unrelated to their most pressing concerns (234).
At age 44, following minor surgery, I suddenly became bedridden for 16-20 hours a day with profound fatigue, lightheadedness, cognitive dysfunction, abdominal pain, diarrhea, and new onset constant migraines. I didn't realize that my milder previous symptoms and sicca were connected to this catastrophic new illness, which was eventually diagnosed as Sjogren's. I had to wait months to see specialists, and it felt like no one was taking my situation seriously. I was losing my career and my ability to care for myself, let alone my children.
Reason # 6: Clinicians tend to default to psychological explanations and functional labels when they do not understand a patient’s complex condition, especially when they are female.
After a year of normal lab tests and no answers, my doctors began to suggest that my symptoms were psychologically based. They reassured me that I was fine because my tests were normal, but I knew that something was terribly wrong. Desperate for answers, I started researching the medical literature and discovered that my symptoms were a good fit for Sjogren’s. I then asked for a referral to a rheumatologist.
Reason # 7: Many rheumatologists stop testing for Sjogren’s if blood tests for the typical antibodies are negative. At age 45, my blood tests came back negative for ANA, SSA, SSB, and RF. Based on these results, the rheumatologist told me that I did not have Sjogren’s or any other autoimmune disease. I consulted with a second rheumatologist who told me the same thing. Rather than giving up, I asked for a lip biopsy. When he said it was unnecessary, I insisted on the referral.
Reason # 8: Many Sjogren's experts confidently assert, without evidence, that a negative lip biopsy rules out Sjogren's in SSA-negative (seronegative) patients. This belief is based on confirmation bias. These experts diagnose seronegative Sjogren's in people because they have a positive lip biopsy. They then assume that their carefully selected patients are representative of the entire Sjogren's population. There is no research on the accuracy of lip biopsy in seronegative patients or studies that look at how lip biopsy results change over time. LIP BIOPSY #1, age 45: widespread inflammation (lymphocytes), FOCUS SCORE 0- NEGATIVE Widespread inflammation on a lip biopsy can be a sign of Sjogren’s (256), but a positive result requires lymphocytes to be organized into clusters (foci) to determine a focus score. This often happens later in the disease process (3). A focus score of greater than or equal to one (>1) is considered positive for Sjogren’s. Despite having typical Sjogren’s symptoms, based on this biopsy result, my rheumatologist said I did not, could not, and would likely never have Sjogren's. He was wrong. Because I clearly did have Sjogren’s at the time, this first biopsy gave a false negative result. Reason # 9: There are no diagnostic criteria for Sjogren’s. Many rheumatologists misuse classification criteria as diagnostic criteria (77). The classification criteria should not be used as a substitute for clinical judgment; they are not adequate for diagnosing SSA-negative Sjogren’s (139).
Using the medical literature, I was able to make a case that I could have Sjogren’s based on my clinical despite testing negative for both SSA and the lip biopsy. At age 45, after months of self-advocacy, my rheumatologist agreed that I had “possible Sjogren’s” and prescribed hydroxychloroquine at my request. I remain grateful to this day that he was willing to think outside the box. Reason # 10: Rheumatologists often incorrectly view SSA-negative (seronegative) Sjogren’s as uncommon and mild, and therefore unimportant to diagnose and treat. The true prevalence of seronegative Sjogren’s is likely higher than the commonly stated 30% because many rheumatologists will not diagnose patients who are SSA-negative patients. Repeated SSA testing only occasionally yields a positive result.
From Ages 45-52, while continuing to test negative for ANA, SSA, SSB and RF, I developed a stubborn parotid gland infection, inflammatory arthritis, and Raynaud’s. I suffered from three bouts of peritonitis which required high dose steroids. Based on these new features, my rheumatologist changed his assessment from “possible” to “probable” Sjogren’s and encouraged me to enroll in a new research study so that I could get a second lip biopsy.
Reason # 11: A lip biopsy is more likely to be positive later in the disease (3). Many rheumatologists are unaware of this and incorrectly assume that a single negative lip biopsy rules out Sjogren’s.
LIP BIOPSY #2, age 52: FOCUS SCORE 1.5 - POSITIVE (Research study) I was formally diagnosed with seronegative Sjogren’s thanks to a positive lip biopsy at age 52, more than 30 years after my first symptoms appeared and 8 years after the onset of incapacitating symptoms.
Reason # 12: Although the lip biopsy is sometimes referred to as the “gold standard” for Sjogren’s diagnosis but it has significant false positive and false negative rates. The true gold standard for diagnosis is the clinician's expert opinion (2, 153). Unfortunately, there are few experts.
LIP BIOPSY #3, age 54: fibrosis and atrophy, FOCUS SCORE 0 - NEGATIVE (Research study) At age 54, a third lip biopsy showed fibrosis (scarring) and atrophy (shrinkage), a consequence of long-term inflammation and damage (257). Fortunately, my rheumatologist understood that this finding did not negate my Sjogren’s diagnosis. This biopsy, like my first, gave a false negative test result. See MYTH # 5 on the MYTHS ABOUT DIAGNOSIS page for tools and strategies that you can use to counter misperceptions about the lip biopsy.
Summary of my diagnosis with seronegative Sjogren's
I was diagnosed with dry eye disease at age 18 after slowly building eye symptoms throughout my teens. Dry eye disease (eye sicca) was my first obvious sign of Sjogren's, but no one suspected it.
I had Sjogren’s when I underwent lip biopsies at ages 44, 52, and 54, but only at age 52 did I have a positive lip biopsy and qualify for an official diagnosis.
My lip biopsy changed from negative to positive to negative over a 10-year period. A diagnosis of Sjogren’s can be missed if the biopsy is performed too early or too late. Sampling technique many be inadequate and pathology is often not read and reported consistently. There are no large studies that look at how lip biopsy results change over time.
Like many seronegative patients, I did not meet the classification criteria for decades after my first symptoms of Sjogren’s appeared.
Sjogren’s is a clinical diagnosis that is supported by, but not ruled out by,
any one diagnostic test.
Diagnosis should never be reduced
to a box-ticking exercise of the Sjogren’s classification criteria.
For more information:
For information and self-advocacy tools:
Do you have antibodies? SSA and Sjogren’s Autonomic Disorders/POTS MYTHS ABOUT DIAGNOSIS - for self-advocacy tools. See Myth #5 for more about the lip biopsy. See Handouts for Clinicians to learn how to choose and share Sjogren’s information with your clinician. Need help?
If you are struggling to get diagnosed, I recommend joining a local support group and/or Smart Patients. If you are SSA-negative, ask for referrals to rheumatologists who understand the importance of diagnosing and treating SSA-negative Sjogren’s.