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Assessing disease phenotypes in Behçet's syndrome: insights from a multiple correspondence analysis
Rosaria Talarico1, Federica Di Cianni1,2, Antonello Sulis1
1Rheumatology Unit, Azienda Ospedaliero-Universitaria Pisana, Pisa, Italy.
Frontiers in Immunology
|July 8, 2025
Summary
This study identified four distinct clinical phenotypes in Behçet's syndrome (BS) patients, revealing new insights into disease patterns. These findings may guide future phenotype-based therapeutic strategies for managing this rare vasculitis.
Area of Science:
- Rheumatology and Immunology
- Systemic Vasculitis Research
- Clinical Phenotyping Studies
Background:
- Behçet's syndrome (BS) is a rare systemic vasculitis characterized by diverse and often clustered clinical manifestations.
- The existence of distinct clinical phenotypes in BS is a recent area of investigation, necessitating further research.
- Understanding BS phenotypes is crucial for accurate diagnosis and potentially tailored treatment approaches.
Purpose of the Study:
- To identify and analyze distinct clinical disease phenotypes within a monocentric historical cohort of Behçet's syndrome patients.
- To investigate patterns of association among demographic and clinical variables to define specific BS phenotypes.
- To contribute to a better understanding of BS heterogeneity.
Main Methods:
- Retrospective analysis of demographic, clinical, and therapeutic data from 202 Behçet's syndrome patients.
- Utilized pairwise correlation analysis (Pearson or Spearman) to evaluate variable associations.
- Employed Multiple Correspondence Analysis (MCA) to identify distinct disease phenotypes based on variable patterns.
Main Results:
- Four distinct Behçet's syndrome phenotypes emerged from the Multiple Correspondence Analysis.
- Phenotype A: Male Caucasians with specific mucocutaneous and joint involvement; Phenotype B: Benign subset with pathergy; Phenotype C: Orchitis/epididymitis with neurological and ocular involvement; Phenotype D: Gastrointestinal symptoms with vascular and other systemic involvement.
- Significant correlations were found between various manifestations, such as skin lesions with oral ulcers and arthritis, and neurological involvement with ocular lesions and gastrointestinal symptoms.
Conclusions:
- This study successfully identified four potential clinical phenotypes in Behçet's syndrome, offering valuable insights into disease heterogeneity.
- The identified phenotypes partially align with findings from previous international association studies.
- Further observational studies are recommended to evaluate the efficacy of phenotype-based therapeutic strategies in BS management.
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