Abstract
Background
Paediatric sarcoidosis represents a spectrum of disease. Early onset sarcoidosis & Blau syndrome associated with NOD2 mutations are characterized by fever, rash, arthritis & organomegaly. Later onset sarcoidosis has wider organ involvement (lungs, kidneys, lachrymal & extra-ocular glands). Both presentations may lead to long term complications due to end-stage organ damage. Ocular sarcoidosis has a well described uveitis phenotype.
We aim to describe a retrospective cohort of children with sarcoid-like uveitis & their systemic manifestations at time of study; compare cohort of patients fulfilling IWOS criteria for ocular sarcoidosis versus who did not; and describe their management in retrospective cohort.
Methods
We performed a retrospective case review of all children currently followed at GOSH with ocular sarcoidosis phenotype with uveitis (ophthalmologist definition based on IWOS, or diagnosis of idiopathic uveitis with raised ACE level at least once. We collected demographics & all extra-ocular involvement described in sarcoidosis.
Results
n = 52; 27/52 males. Median age at onset of uveitis 4.20 years (1.41-15.16). 49/52 bilateral uveitis. 27/52 (50%) <8years age at onset & 2/6 NOD 2 + belonged to this group. Median ACE 68 U/L at presentation (0-90U/L). Median maximum ACE 74 (14-420). NOD2 tested in 12 patients: 6+ , 6- . 1/6 positive patient had Blau phenotype. Ethnicity: African 12/52, asian 11/52, caucasian 14/52, unknown 15/52. Uveitis: Anterior 17/52(32.6%), Anterior+Intermediate 1/52, intermediate 5/52(9.6%) , posterior 2/52, panuveitis 25/52(48%), undocumented 2/52. ANA positive (>1:80) in 15/47 (32%). Systemic involvement (n = 52): arthritis 29%, liver 29%, lymphadenopathy 19%, renal 16%, lungs 15.3%, skin 17.3%, spleen 7.7%, glands 1.9%. Patients as per adult IWOS criteria: Definite 12/52, Presumed 6/52, Probable7/52 and Not fulfilling – 27/52.
Systemic involvement in patients not fulfilling IWOS criteria (27/52) – renal 14.8%, arthritis 22.2%, hilar or peripheral lymphadenopathy 0 %, skin involvement 7.4%, lung 18.5%, splenomegaly 3.7%. Comparing IWOS fulfilling (25) with the ones who did not (27) – systemic involvement consistently less common in the ones NOT fulfilling but only reaches statistical significance difference for involvement. Lymphadenopathy and skin (p < 0.001 and p < 0.050 respectively). Suggesting that paediatric age group cannot be classified as per the adult IWOS ocular sarcoidosis criteria and needs early systemic screening.
Medications used to treat uveitis and/or extra-ocular manifestations: methotrexate alone 25%, methotrexate + adalimumab 21.1%, mycophenolate mofetil 9.61%, only systemic steroids 3.8%. 9 patients- no systemic medications at any time during their disease.
Conclusion
Most sarcoid-like uveitis patients had at least one systemic involvement. 51.9% patients did not fulfil the IWOS ocular sarcoidosis criteria, still had systemic involvement. Hilar lymphadenopathy criteria cannot be applied to the paediatric population, peripheral more common. ACE not a sensitive biomarker to predict sarcoidosis. 17.3 % had mild phenotype & required no treatment.
This study demonstrates the importance of close monitoring for systemic manifestations & highlights good clinical response to steroids, MTX, MMF and anti-TNF.
Conflicts of Interest
The authors declare no conflicts of interest.
Ocular Involvement in Hereditary Amyloidosis
