THE DIAGNOSTIC CHALLENGE OF CHILDHOOD PRIMARY SJÖGREN SYNDROME: A SINGLE-CENTER CASE SERIES

Abstract

<h3>Background</h3> Primary Sjögren syndrome (pSS) is a chronic autoimmune disease affecting the exocrine glands, most commonly observed in middle-aged women. Childhood pSS is both rare and underdiagnosed, since pediatric patients often do not fulfill the diagnostic criteria applicable to adults. <h3>Objective</h3> To present 7 pediatric cases evaluated for pSS and emphasize the need for childhood-adapted diagnostic criteria. <h3>Methods</h3> All pediatric cases under investigation for pSS referred to our department between January 2018 and December 2019 for oral evaluation and labial minor salivary gland biopsy were reviewed, and the relevant data were analyzed. <h3>Results</h3> Seven of 144 patients with suspected pSS were children (4.86%), and they were aged between 5 and 15 years old. Sicca symptoms and low unstimulated salivary flow rate were present in 1 patient each. Although focal lymphocytic sialadenitis (FLS) was observed in all patients, a focus score of 1/4 mm² was present in 5 of 7 cases, in 1 of which light chain B-cell monoclonality was also noted. Four of these 5 patients were subsequently diagnosed with pSS according to the American College of Rheumatology/European League Against Rheumatism 2016 classification criteria, whereas 1 seropositive patient, 1 with a high focus score, and 1 with recurrent parotid swelling and a positive family history did not meet the above criteria. <h3>Conclusions</h3> Pediatric patients may not fulfill the strict adult criteria for pSS, since destruction of the exocrine glands may not be measurable from the onset. Instead, recurrent parotid gland swelling and presence of any FLS, regardless of the focus score, may serve as alternative criteria in order to avoid underdiagnosis.