Pulmonary manifestations of childhood-onset primary Sjogren’s syndrome (SS) masquerading as reactive airways disease in a male patient and review of interstitial lung disease associated with SS

Abstract

Background Sjogren’s syndrome (SS) is a rare chronic autoimmune disease involving exocrine glands presenting with sicca syndrome, recurrent parotitis and other extraglandular stigmata. SS is well characterized in the adult population with classification criteria; however, primary SS presenting in childhood is poorly defined and rare in males. Recurrent parotitis is the most common presenting symptom in children with primary SS; however, clinical phenotype in children appears more variable than in adults. The lungs are a common extraglandular location for manifestations of primary SS. However, interstitial lung disease (ILD) is rare in children with primary SS. There are only four published reports of ILD associated with primary SS in female children. Here, we present a very rare case of primary SS in a pediatric male with pulmonary manifestations and review of the literature on ILD in childhood-onset primary SS. Case presentation A 14-year-old White male with a history of chronic severe asthma, recurrent parotitis and idiopathic intracranial hypertension was referred to pediatric rheumatology for evaluation of a positive ANA. In early childhood, he was diagnosed with persistent asthma recalcitrant to therapy. At age 8, he developed recurrent episodes of bilateral parotitis despite multiple treatments with sialoendoscopy. At age 14, respiratory symptoms significantly worsened prompting reevaluation. Lab workup was notable for positive ANA and Sjogren’s Syndrome A and B antibodies. Pulmonary function tests showed only a mild obstructive process. Computed tomography of chest was significant for small airway disease, and lung biopsy was positive for mild interstitial lymphocytic inflammation presenting a conflicting picture for ILD. The constellation of findings led to the diagnosis of primary SS with associated pulmonary manifestations. He was treated with hydroxychloroquine, mycophenolate mofetil and oral corticosteroids with resolution of symptoms. Conclusions Primary SS is a rare disease in the pediatric population that is poorly characterized. This case is the very rare presentation of childhood-onset primary SS with pulmonary manifestations in a male patient. ILD associated with primary SS is also very rare with only four pediatric patients reported in the literature. Collaborative effort is needed to develop pediatric specific diagnostic and treatment guidelines in this rare condition.

The Role of Small Airway Disease in Pulmonary Fibrotic Diseases

“…Lin, W. et al [112] Retrospective study Data of 333 patients with newly diagnosed pSS were analyzed.…”

“…On the other hand, primary SS (pSS) typically involves the airways [108][109][110]. ILD involvement and the coexistence of small airway lesions in pSS-interstitial lung disease has been revealed through several studies of pSS patients using spirometry and total lung capacity, as well as diffuse lung capacity that were impaired [111,112]. In a cross-sectional study aimed at estimating the prevalence of chronic respiratory symptoms in pSS, 114 consecutive patients were investigated with PFTs and chest HRCT on inspiratory and expiratory phases.…”

New developments related to lung complications in pediatric rheumatic disease

“…Bartholomea et al published the case of a child that was originally diagnosed with severe asthma who had chronic respiratory symptoms and an obstructive PFT pattern (decreased FEV1/FVC ratio and air-trapping on lung volumes). The child was unresponsive to aggressive asthma management and also had a history of recurrent parotitis and on further evaluation had a positive antinuclear antibody (ANA) titer of 1 : 160, positive Sjogren's syndrome A (SSA) and SSB antibodies, which led to the diagnosis of Sjogren's syndrome [8]. His PFTs improved after initiation of treatment with high-dose prednisone taper over 3 months, hydroxychloroquine, and mycophenolate mofetil.…”

Innovations in the Care of chILD Associated with Connective Tissue Disease and Immune Mediated Disorders

“…Sjögren's syndrome is an autoimmune disorder involving destruction of exocrine glands which is characterized by sicca (dryness) syndrome, recurrent parotitis, and other extra-glandular symptoms. Sjögren's is poorly defined in children with unknown incidence and variable presentation, with no established diagnostic criteria [121]. Pulmonary manifestations in children and adults include restrictive lung disease from myositis, ILD, airway disease.…”

“…Pulmonary manifestations in children and adults include restrictive lung disease from myositis, ILD, airway disease. ILD in children appears to be exceedingly rare, limited to four case reports in female children [122][123][124][125] and one case report of a male child [121]. Given the limited data on ILD in childhood onset Sjögren's Syndrome, we urge careful screening for pulmonary involvement through close review of respiratory symptoms and monitoring of PFTs.…”