Abstract
Background/purposeTo assess EDI-OCT (enhanced depth imaging optical coherence tomography) of choroid for inflammatory signs in children with polyarteritis nodosa (PAN) and adenosine deaminase-2 deficiency (DADA-2).MethodsIn this cross-sectional study conducted between June 2017 and September 2018, we evaluated children diagnosed with PAN (n = 11) and DADA-2 (n = 4) and an age- and sex-matched control group (n = 15). Demographic and laboratory data were retrospectively analyzed from patient charts. Disease activity was assessed using the pediatric vasculitis activity score (PVAS). Choroidal images were obtained with spectral domain-OCT to measure choroidal thickness (ChT) at 5 points (750 and 1500 μm from the foveal center in the temporal and nasal quadrants and beneath the fovea), and to calculate the total subfoveal choroidal area (TCA), luminal area (LA), stromal area (SA), and the choroidal vascularity index (CVI).ResultsThe median (min-max) age was 8 (4–16) years in PAN patients, 6 (5–16) years in DADA-2 patients and 8 (8–10) years in control group at the OCT visit (p = 0.214). The ChT at 3 points and the TCA, LA, and SA were higher in children with both PAN and DADA-2 patients compared to those of the control group (p < 0.0001, p = 0.049, p = 0.007, p = 0.007, p = 0.006, p = 0.033, respectively). The CVI was similar in both groups. No association was observed between the OCT findings, PVAS, and the erythrocyte sedimentation rate, and serum leukocyte and C-reactive protein levels.ConclusionSimilar CVI scores were obtained from PAN and DADA2 patients under treatment and from healthy controls. Increased subfoveal ChT without any other signs of ocular involvement may suggest choroidal thickening as a sign of mild subclinical inflammation.
Highlights
Polyarteritis nodosa (PAN) is a systemic necrotizing vasculitis affecting small or medium arteries
When Kussmaul and Maier first described PAN, most cases of necrotizing vasculitis were classified as PAN Chapel Hill Classification criteria has provided us with clear definitions for each vasculitis including PAN [1, 4]
Whole-exome sequencing has enabled the identification of monogenic diseases misdiagnosed as PAN
Summary
Polyarteritis nodosa (PAN) is a systemic necrotizing vasculitis affecting small or medium arteries. Unlike ANCA-associated vasculitides, pathogenesis of classic PAN remains unclear. When Kussmaul and Maier first described PAN, most cases of necrotizing vasculitis were classified as PAN Chapel Hill Classification criteria has provided us with clear definitions for each vasculitis including PAN [1, 4]. Whole-exome sequencing has enabled the identification of monogenic diseases misdiagnosed as PAN. An example of this monogenic necrotizing vasculitis disease spectrum is deficiency of adenosine deaminase-2 (DADA2). In 2014, two studies, one by Navon Elkan [5] et al and the other by Zhou Q [6] et al, reported an association between DADA2 and PAN, providing some insight to disease pathology. The authors highlighted the significance of the cat eye syndrome chromosome region candidate 1 (CECR1) gene, which encodes the ADA2 protein and its role in maintaining vascular integrity [6]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
