Background/Purpose:  The diagnostic utility of HLA B51 in association with Behcet’s disease has been clearly identified; however the correlation of HLA B51 with other autoimmune disorders has not been well established to date.  This study aims to assess the correlation between the presence of HLA B51 with other autoimmune disorders, prevalence of Behcet’s in our population and most common presenting symptoms and serologic markers. 

Methods: Retrospective analysis of autoimmune conditions other than Behcet’s disease in patients with HLA B51 allele, which is measured in all incoming patients to our consultation service.  

Results:  At our tertiary reference center, from approximately 1200 screened patients, we identified 55 patients who were HLA B 51 positive.  Out of these 55 patients, 14 (25.5%) met ICBD criteria for Behcet’s disease, 22 (30.7%) had history of oral ulcers, 35 (63.6%) had arthralgias, 12 (21.8%) had history of uveitis, 16(29.1%) had cutaneous features such as cutaneous vasculitis, cutaneous ulcers, digital ulceration, Erythema nodosum, positive pathergy test, papulopostules, acne or folliculitis.  Mean follow-up was 3 years. Only 2 out of 55 were cocaine users.  Our demographics showed 45 females (81.8%) and 32 Hispanics (58.2%), 17 Northern European (30.9%) and 4 Native American (7.3%).  Regarding specific autoimmune disorders, we had 6(10.9%) patients who met SLE criteria, 4 (7.3%)  that met RA criteria, 2 (3.6%) that met PMR criteria, 4 (7.3%) that met Sjogren’s syndrome criteria, 5 (9.1%) spondyloarthropathies, 4 (7.3%)with scleroderma/CREST, and 1 with Dermatomyositis (1.8%).  No patient had giant cell arteritis, granulomatosis with polyangiitis, Microscopic polyangiitis or eosinophilic granulomatosis with polyangiitis in this study.  Thus, in this cohort 31% of HLA-B51patients had autoimmune disease other than Behcet’s disease; this is remarkable, as HLA-B51 is present in only 0.2-1.5% of reference populations. 

Conclusion:  Our study demonstrates that 25.5% of HLA-B51 subjects in our population have Behcet’s disease, but 31% of HLA-B51 positive individuals have other classic autoimmune diseases compared to 0.2-1.5% of reference populations. Thus, the results of this study confirms that HLA B51 is associated with Behcet’s disease, but these data also suggest that HLA-B51 may also play a hereto unrecognized role in either inducing, modulating, or upregulating other forms of autoimmune disease to cause a 20 fold increase in HLA-51 prevalence from reference populations.

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/hla-b51-and-possible-associated-autoimmune-disorders-other-than-behcets-disease-a-retrospective-cohort-study/