Evaluation of HLA-B51 frequency and its relationship with clinical findings in patients with Behçet’s disease: 4-year analysis in a single center

Abstract

Background The clinical findings of Behçet’s disease (BD) differ according to the country and race investigated. The most important genetic factor known in the pathogenesis of BD is HLA-B51, and this positivity is high in countries on the “Silk Road” where BD is as frequent as it is in Turkey. Although the positivity of HLA B51 is proven to be high in Turkey, there are no studies in the area of the western Black sea demonstrating its relation to the demographic. We aimed to investigate the association of HLA-B51 positivity in Turkish patients diagnosed as having BD and the relationship between the demographic and clinical findings of the patients. Results In this descriptive, cross-sectional study, a convenience sample of adults with BD was obtained from an outpatient clinic of a university hospital in Turkey between January 2018 and January 2022. Patients were diagnosed as having BD according to the criteria of the International BD Study Group, and the patients’ sociodemographic and clinical characteristics were recorded retrospectively. Demographic data and the frequency of clinical findings were compared between patients who were HLA-B51-positive and HLA-B51-negative. Sixty patients (55.6%) were HLA-B51-positive. Oral ulceration, genital ulceration, thrombophlebitis, and family history of BD were found to be higher in patients who were HLA-B51-positive. Erythema nodosum, papulopustular eruption, pathergy positivity, arthritis, and ocular involvement were less frequent in patients with HLA-B51 positivity. However, there were no statistically significant differences according to the frequency of clinical findings between the HLA-B51-positive and HLA-B51-negative groups. Conclusions HLA B51 positivity is not diagnostic of BD; however, it may affect clinical phenotypes. Although oral and genital ulcerations, thrombophlebitis, and positive family history of BD were found to be common in patients with HLA-B51 positivity, this relationship could not reach statistical significance.

Advances and Challenges in Diagnosing Behçet’s Disease: A Comprehensive Review

“…For instance, both Behçet's disease, Systemic lupus erythematosus (SLE), and Reactive Arthritis (ReA) may present with symptoms such as oral ulcers, skin lesions, uveitis, arthritis, and joint pain, making it challenging to differentiate between the two conditions (Seyahi et al, 2021) [65,66]. Studies demonstrate that positive HLA B51 is not diagnostic of BD but may affect clinical phenotypes, whereby oral and genital ulcerations, thrombophlebitis, and positive family history of BD are found in patients with HLA-B51 positivity [67]. These overlapping features can complicate the diagnostic process, leading to misdiagnosis or delayed diagnosis.…”