Abstract

MCLEOD, Nelly Colman et al. Clinical spectrum and genetic biomarkers of susceptibility in Vogt-Koyanagi- Harada syndrome in Paraguayan patients. Rev. parag. reumatol. [online]. 2021, vol.7, n.1, pp.13-22. ISSN 2413-4341.  https://doi.org/10.18004/rpr/2021.07.01.13.

Background: Vogt-Koyanagi-Harada (VKH) syndrome is a severe disease with autoimmune etiology. It manifests with bilateral panuveitis and can affect the nervous and auditory system, as well as the skin. The influence of genetic factors on the expression of VKH has been evidenced in multiple studies. It has a poor visual prognosis if diagnosis and treatment are delayed. Having biomarkers of genetic susceptibility could be of great help. The aim of this study is to describe the clinical spectrum and determine genetic biomarkers of susceptibility in VKH disease. Methodology: Case-control study of genetic susceptibility for VKH. Clinical data was registered and HLA DRB1 genotyping of cases and controls was performed. Results: 21 patients with VKH were included for the clinical registry, 16 of these were enrolled for HLA-DRB1 genotyping. Thirty two healthy controls were included. Most patients were female (81%,) average age 35 years, the clinical forms were: Probable VKH 10 (47.6%) and Incomplete VKH 10 (47.6%), Complete VKH 1 case (4.7%). Genotyping: alleles of the HLA DRB1*02 group were present in 5 of the 16 patients (31%) (p0.004) and absent in the controls, no relationship with specific alleles was found. The most frequent allele was HLA DRB1*01:02 present in 4 (25%)of cases and absent in controls. Conclusion: Most of the patients were young female adults. Probable and Incomplete forms were more common. Genetic association of VKH disease with alleles of the DRB1*02 group was found in this Paraguayan cohort. No statistically significant relationship was found with any specific allele, probably because the sample was small. The most frequent allele HLA DRB1*01:02 could be a candidate genetic biomarker in this population.

Keywords : Vogt-Koyanagi-Harada; HLA; uveitis.

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