Background/Purpose: Paediatric sarcoidosis is a multisystemic inflammatory condition characterised by the formation of non-caseating granulomata that may lead to end-organ damage. Diagnosis is challenging as a compatible clinical-radiographic presentation with histopathologic confirmation is needed. Caution must be exercised to exclude granulomata of infectious aetiology as well as those seen in immunodeficiencies associated with immune dysregulation. Little is known about this rare disease’s presentation and outcome in children. We report a retrospective cohort of children with biopsy-confirmed sarcoidosis, their treatment and the course of the disease.

Methods: Patients’ notes were reviewed retrospectively, and multisystem involvement identified. We included patients with biopsies, performed or reviewed at our centre between 2010 and 2020, which were consistent with sarcoidosis and a compatible clinical phenotype.

Results: We identified 42 children with biopsy-proven sarcoidosis. Mean age at diagnosis was 9.4 years; male to female ratio 0.68. Twenty-seven of 42 patients were of Afro-Caribbean descent. Tissues biopsied included lymph node, skin, kidney, liver, lung, submandibular, lacrimal and salivary gland, eye, spleen, bone, brain and synovium.

28 patients had lymphadenopathy, 16 glandular involvement, 17 liver, 17 pancreas, 13 renal, 11 spleen, 27 skin, 14 lung involvement, 11 arthritis, 4 tenosynovitis, 3 hearing loss, 2 bone, 1 cerebral, and 25 eye involvement.

Remarkable laboratory findings included raised levels of serum calcium in 9, amylase in 16, lipase in 4 and ACE in 30 patients; 12 patients had abnormal renal function, 13 abnormal liver function; 13 patients were tested for NOD2 mutations, which were present in 5.

38 patients received treatment for sarcoidosis. Of those, 37 received steroids, 16 intravenous followed by oral steroids, 18 oral steroids only and 18 received steroid eye drops; 36 patients received disease-modifying antirheumatic drugs (DMARDs) including 26 methotrexate, 11 mycophenolate mofetil and 10 azathioprine; 4 patients received hydroxychloroquine, 5 cyclophosphamide; 10 received biologic therapy including anti-TNF, interleukin-1 and IL-6 blockade, JAK inhibitor and rituximab.

All patients had a good response to steroids, and most responded to methotrexate. The treatment of a subset of patients was escalated to include a biologic agent, owing to grumbling disease activity. Although most of the patients were able to wean off regular steroids, the majority remained on long-term DMARDs to maintain disease control.

Conclusion: Our study suggests that non-caseating granulomatous inflammation on biopsy, multiorgan involvement, response to steroids and chronic course are hallmarks of paediatric sarcoidosis. DMARDs, in particular methotrexate, were used with efficacy. When response was partial, addition of a biologic agent was beneficial, particularly in ocular disease. Additional organ involvement occurs over time when the disease is not fully controlled. However, no biomarkers are available to assess disease activity apart from ACE, which demonstrated low sensitivity. Prospective cohort studies are needed to define this rare paediatric disease.

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/paediatric-sarcoidosis-phenotype-of-a-retrospective-cohort-of-biopsy-proven-patients/