Vascular characteristics of pediatric patients with familial Mediterranean fever: a study of optical coherence tomography angiography findings.

PURPOSE: The aim of this study was to investigate the vascular characteristics of pediatric patients with familial Mediterranean fever (FMF) with homozygous c.~(p.M694V) mutations in the MEFV gene by comparing their retinal vascular densities with those of healthy controls by use of optical coherence tomography angiography (OCTA).

STUDY

DESIGN

Prospective observational study.

METHODS

A total of 80 participants, 35 FMF pediatric patients and 45 healthy controls, were included in the study. The baseline demographic and clinical characteristics were examined, and OCTA was used to assess vascular densities in various regions of the superficial and deep capillary plexus (DCP) and optic disc. Statistical analyses were performed to identify significant differences between the groups.

RESULTS

The study demonstrated that patients with FMF exhibited a significant reduction in vascular density within the parafoveal deep capillary plexus (DCP) (P = 0.047). Additionally, vascular density in the inferior and temporal subregions of the perifoveal DCP was significantly lower in the FMF group than in the controls (P = 0.038 and P = 0.027, respectively), with a similar trend observed for the overall perifoveal DCP vascular density (P = 0.025). In addition, optic disc vascular density was significantly lower in the FMF patients than in the healthy controls (P = 0.026). Approximately 60% of the FMF patients had severe disease symptoms, whilst 40% of them had mild symptons.

CONCLUSIONS

The findings suggest significant reductions in deep capillary plexus and optic disc vascular density in children with FMF, further suggesting an underlying vascular pathology related to this autoinflammatory disease. Regular ophthalmic evaluations are necessary to monitor potential effects on retinal health in pediatric FMF patients, even when anterior segment examination findings are normal.