Session Type: ACR Poster Session C
Session Time: 9:00AM-11:00AM
Behçet’s disease is a multisystem disease affecting young adults with variable vessel vasculitis as its underlying pathology. Previous studies in Behçet’s disease linked it to the Human Leucocytic antigens (HLA) class I molecules however the use of High-resolution Next Generation Sequencing (NGS) wasn’t adopted before for all HLA loci (both class I and II ) analysis along with the haplotype analysis. This study aims to identify the Behcet disease susceptibility with class I and II HLA alleles using NGS along with their haplotype analysis to help better understand the disease process and to find a possible association with disease manifestations and severity.
Sixty patients from specified geographical distribution diagnosed according to the International Study Group (ISG) criteria for Behçet’s disease along with 160 normal geographically ethnic-matched controls were typed for the class I HLA alleles and from the control group, 40 control samples were typed for class II HLA alleles.
The work was a part of participation in the 17th International Histocompatibility and Immunogenetics Workshop (
Sixty patients were enrolled with mean age 35.28 (±9.82 years) with 54 males (90%). The main clinical manifestations were oral ulcers (100%), genital ulcers (100%), eye involvement (55%) neurological involvement (28%) and vascular involvement (35%). Furthermore, (33%) had bilateral visual acuity < or = 6/60 fulfilling the diagnosis of legal blindness
HLA class I alleles A*68:02:01,B*51:08:01,C*16:02:01 showed highest level of association with Behcet disease patients with an OR =3 (p=0.01) and OR=18.6 (p<0.0000001) and OR=6.7 (p<0.000001) respectively. As for HLA
Among the studied Behçet’s Patients, HLA-B*51:08:01 is the most frequent susceptibility allele in contrast to other reported populations. Risk of Severe ocular involvement progressing to the blindness of patients was more than 10 folds increased in HLA-B51 positive patients as compared to other patients. HLA-B51 together with HLA-A68 both hold the increased risk of blindness and permanent morbidity in patients with Behcet disease, which if known at diagnosis would modify treatment options in order to salvage the patients’ eyesight. Higher resolution analysis of HLA class I alleles and haplotypes specially HLA-B is valuable in knowing susceptibility and aiding in disease control and decreasing ocular morbidity in Behcet disease patients
To cite this abstract in AMA style:Elfishawi M, Elfishawi S, Mossallam G, Norman P, Hollenbach J, Misra M, Martin GM, de Bruin H, Van de Pasch L, Rozemuller E, Fernandiz-Vina M, Abrudescu A, Zaky K. Behcet’s Disease Lies in the “B” Holder. New Associations in Disease Susceptibility and Manifestations [abstract]. Arthritis Rheumatol. 2018; 70 (suppl 10). https://acrabstracts.org/abstract/behcets-disease-lies-in-the-b-holder-new-associations-in-disease-susceptibility-and-manifestations/. Accessed September 30, 2020.
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ACR Meeting Abstracts - https://acrabstracts.org/abstract/behcets-disease-lies-in-the-b-holder-new-associations-in-disease-susceptibility-and-manifestations/