Pediatric Sarcoidosis: Retrospective Analysis of Biopsy-Proven Patients

Abstract

ObjectiveTo describe the phenotype, disease course, and treatment of a large cohort of children with sarcoidosis.MethodsPatients with biopsies consistent with sarcoidosis, performed between 2010 and 2020, were included in this study. Patients' notes were reviewed retrospectively. Children with disease onset before 5 years of age were compared with older children. Regression analysis was performed to determine predictors of treatment outcome.ResultsIn total, 48 children with a mean age at diagnosis of 9.5 years, with a male to female ratio of 0.71, were identified. In total, 72% of the children were of Black race and 94% had multiorgan disease, with an average of 4.8 organs involved, most commonly lymph nodes (65%), skin (63%), and eyes (60%). Laboratory findings of note included raised serum calcium in 23% of patients and raised angiotensin-converting enzyme in 76% of patients. Out of 14 patients tested, 6 had mutations in NOD2. In total, 81% of patients received systemic steroids and 90% received conventional disease-modifying antirheumatic drugs (DMARDs); in 25% of patients, a biologic was added, mostly anti–tumor necrosis factor (anti-TNF). Although most patients could be weaned off steroids (58%), most remained on long-term DMARDs (85%). Children under the age of 5 years presented more often with splenomegaly (P= 0.001), spleen involvement (P= 0.003), and higher C-reactive protein (P= 0.10). Weight loss was more common in adolescents (P= 0.006). Kidney (P= 0.004), eye (P= 0.005), and liver involvement (P= 0.03) were more common in Black patients. Regression analysis identified no single factor associated with positive treatment outcomes.ConclusionMultiorgan involvement, response to steroids, and chronic course are hallmarks of pediatric sarcoidosis. The phenotype significantly varies by age and race. Where conventional DMARDs were not efficacious, the addition of an anti-TNF agent was beneficial.