Abstract
Objective To describe the phenotype, disease course, and treatment of a large cohort of children with sarcoidosis.
Methods Patients with biopsies consistent with sarcoidosis, performed between 2010 and 2020, were included. Patients' notes were reviewed retrospectively. Children with disease onset before five years were compared with older children. Regression analysis was performed to determine predictors of treatment outcome.
Results Forty-eight children with a mean age at diagnosis of 9.5 years and male to female ratio of 0.71 were identified. 72% were of Afro-Caribbean descent. 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 were raised serum calcium in 23% and ACE in 76% of patients. 6 of 14 patients tested had mutations in NOD2. 81% of patients received systemic steroids, 90% conventional disease-modifying antirheumatic drugs (cDMARDs), and in 25%, a biologic (mostly anti-TNF) was added. Although most patients could wean off steroids (58%), most remained on long-term DMARDs (85%). Children before the age of five presented more often with splenomegaly (p=0.001), spleen involvement (p=0.003), and higher CRP (p=0.003). Weight loss was more common in adolescents (p=0.006). Kidney (p=0.004), eye (p=0.005), and liver involvement (p=-0.028) were more common in black ethnicity. Regression analysis identified no single factor associated with positive treatment outcomes.
Conclusion Multiorgan involvement, response to steroids, and chronic course are hallmarks of pediatric sarcoidosis. The phenotype significantly varies for age and ethnicity. Where cDMARDs were not efficacious addition of an anti-TNF was beneficial.
