Hunting for the ‘elusive’ Sjögren’s diagnosis: How multiple specialties can improve delays
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In rheumatology, there is no shortage of conditions that are difficult to diagnose, with diseases like fibromyalgia and systemic lupus erythematosus sometimes taking years before being officially identified — leading to adverse outcomes.
However, one condition that might be even more difficult to nail down is Sjögren’s syndrome, according to Pulukool Sandhya, MD, a rheumatologist at St. Stephen’s Hospital, in Delhi, India.
Sjögren’s is typically more evasive than other autoimmune conditions, Sandhya said, adding that the keys to reducing diagnostic delays and improving patient outcomes lie in cross-specialty collaboration and improved research focus.
In recognition of National Sjögren’s Syndrome Awareness Month in April, Healio spoke with Sandhya to learn more about the common reasons behind diagnostic delays in patients with Sjögren’s syndrome.
Healio: Why are diagnostic delays in Sjögren’s syndrome dangerous?
Sandhya: Early diagnosis leads to regular monitoring for complications and effective intervention to prevent disease progression. If a systemic manifestation — for example, neurological, lung, or renal disease — is due to Sjögren's, there is a window of opportunity where the patients would benefit from immunosuppression, and this window of opportunity is lost when the diagnosis is delayed. Additionally, patients with Sjögren's syndrome have a higher risk for lymphoma.
Delayed diagnoses can tremendously impact the quality of life of patients. In many instances, patients spend time and multiple hospital visits only to be told by doctors that their symptoms are psychosomatic. This also leads family and friends to believe that the patient may be faking and malingering. All these take a toll on the patients' mental health even as their physical health continues to suffer.
Healio: What factors contribute to diagnostic delays in patients with Sjögren’s syndrome?
Sandhya: Some of the factors include a lack of training and education about Sjögren’s syndrome among the doctors. Autoimmune diseases in general do not have diagnostic criteria or a single confirmatory blood test. Among all the autoimmune diseases, patients with Sjögren’s syndrome present with a wide variety of manifestations to different specialists, who may not be aware of the need to screen for Sjogren's and refer them to a rheumatologist. Some of the symptoms and signs may appear vague and non-specific, causing these to be brushed off as normal or “functional.”
Healio: You noted on Twitter that centers that have a focus on Sjögren’s syndrome often fail to diagnose the disease. Are there any similar conditions that might cause these centers to miss diagnoses?
Sandhya: I meant to say that even in centers where there is a focus on Sjögren’s syndrome, only 64% of rheumatologists correctly diagnose Sjögren's syndrome at the first visit. So, where there is not enough thrust, the statistics are likely to be more dismal. This just emphasizes how elusive the disease can be.
Healio: Is there a role for other specialties to help detect Sjögren’s syndrome before a delay?
Sandhya: There is room for many other specialties to aid in detecting Sjögren’s syndrome. Dermatology, nephrology, urology, pulmonology, neurology, hematology, cardiology, obstetrics and gynecology and dental professionals can all assist by keeping an eye out for potentially related conditions. Rheumatologists should actively engage with their colleagues across different specialties and persuade them to consider Sögren’s syndrome in the following scenarios, even when the patient doesn’t have sicca features.
Some conditions in dermatology include palpable purpura, annular erythema and urticarial vasculitis. In nephrology, physicians can look for renal tubular acidosis, cryoglobulinemic nephritis and tubulointerstitial nephritis. Pulmonologists can look for interstitial lung disease and lymphocytic interstitial pneumonia. Neurology has several telltale conditions including lymphocytic meningitis, sensorimotor neuropathy and dysautonomia. Cardiologists can look for pulmonary arterial hypertension. Hematologists can look for cytopenia, hemolytic anemia and unexplained monoclonal gammopathy.
Dentists should keep an eye out for patients who have had an unusual number of procedures performed at ages younger than may typically be expected.
Healio: What strategies can rheumatologists employ to think differently about the presenting symptoms to miss fewer cases?
Sandhya: Rather than limiting screening by asking the sicca questionnaire, look for objective exocrine dysfunction and anti-SSA antibodies in those with the above-mentioned systemic manifestations. Though the above manifestations can be seen in other rheumatic diseases as well, the difference is that in lupus, rheumatoid arthritis and scleroderma, the features of the underlying rheumatic disease are obvious and hence more likely to be diagnosed and referred to a rheumatologist.
Whereas in the case of Sjögren’s syndrome, its features may be subtle, and the systemic features may be the predominant feature, or in many cases, the presenting manifestation. Hence, there is a need for a high index of suspicion followed by systematic screening for Sjögren’s in these case scenarios.
Healio: What kind of research could contribute to reduced diagnostic delays in patients with Sjögren’s syndrome?
Sandhya: A study colleagues and I conducted at Christian Medical College, Vellore, India sensitized us to some facts.
Number one, a majority of patients do not volunteer sicca symptoms unless specifically asked for. Two, early diagnosis was facilitated by clinicians who actively enquired for sicca features and ordered anti-SSA antibodies in patients with suspicious systemic features of Sjögren’s syndrome, even when they had no sicca symptoms. Three, in contrast to the perimenopausal age at onset in Caucasian patients, patients from India had a lower age at disease onset. Similar trends have been reported in Chinese studies as well.
These may not be generalizable as geo-ethnic variation in Sjögren’s syndrome is known, and therefore, studies across different populations are required.
To reduce diagnostic delays in patients with Sjögren’s syndrome, the focus should be on studies evaluating the gaps in knowledge, attitude and practices among clinicians, and surveys among patients to understand the age at onset of symptoms and the initial symptoms and progression.
As the medical system, referral pathway and testing process varies from country to country, it also needs to be assessed how this influences delay in diagnosis.
Reference:
Sandhya P, et al. Int J Rheum Dis. 2019;doi: 10.1111/1756-185X.13641.
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