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Behçet’s syndrome: recent advances to aid diagnosis

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Abstract

Behçet’s syndrome is a recurring inflammatory multiorgan disorder affecting the skin, mucosa, eyes, joints, stomach, and central nervous system. Behçet’s syndrome epidemiology varies greatly among populations (0.64–420/100,000), and Behçet’s syndrome has gained increasing international acclaim in the recent 50 years due to raising awareness of the syndrome, although it is rare in most population. In addition to the unclear etiology of the syndrome, the diagnosis of Behçet’s syndrome is complicated by a vague clinical presentation, phenotypic heterogeneity and/or incomplete representation, and the lack of any specific laboratory, radiographic, or histological findings. There exists a dire need to elucidate factors that contribute to disease pathogenesis and/or are associated with clinical features of Behçet’s syndrome and the classification of different forms of the syndrome. The identification of such molecular, cellular, and/or clinical factors are crucial for timely diagnosis and efficacious management of Behçet’s syndrome. We discuss recent advances in the clinical diagnosis of Behçet’s syndrome and related contributions of genetics, epigenetics, microbiome, inflammasomes, and autoantibodies to the improved diagnosis, management, and understanding of Behçet’s syndrome.

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The data are available from the corresponding author upon reasonable request.

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Funding

This study was funded by Hacettepe University Scientific Research Projects Coordination Unit [grant number TSA-2019–17549]. THA is supported by funds from a Global Affairs Canada Go-Global Study in Canada Scholarship. KLB is supported by a BC Children’s Hospital Salary Award and a Michael Smith Foundation for Health Research Scholar Award.

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Authors and Affiliations

  1. Department of Medical Biology, Faculty of Medicine, Hacettepe University, Ankara, Turkey

    Tayfun Hilmi Akbaba & Banu Balci-Peynircioglu

  2. BC Children’s Hospital Research Institute, Vancouver, Canada

    Tayfun Hilmi Akbaba & Kelly L. Brown

  3. Division of Rheumatology, Department of Pediatrics, Faculty of Medicine, University of British Columbia, Vancouver, Canada

    Tayfun Hilmi Akbaba & Kelly L. Brown

  4. Division of Rheumatology, Department of Internal Medicine, Faculty of Medicine, Hacettepe University, Ankara, Turkey

    Mustafa Ekici & Ömer Karadağ

  5. Department of Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey

    Ayşe İlksen Çolpak

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  1. Tayfun Hilmi Akbaba
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T.H.A and M.E. wrote the main manuscript text, and A.I.C., K.L.B., O.K., and B.B.P. reviewed the article.

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Correspondence to Banu Balci-Peynircioglu.

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Akbaba, T.H., Ekici, M., Çolpak, A.İ. et al. Behçet’s syndrome: recent advances to aid diagnosis. Clin Exp Med 23, 4079–4090 (2023). https://doi.org/10.1007/s10238-023-01226-7

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