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Toward Molecular Diagnoses for Autoimmune Rheumatic Diseases

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Diagnoses Without Names

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Abstract

Current diagnoses of systemic rheumatic diseases, such as systemic lupus erythematosus, rely on symptom-based classification criteria. However, these disorders exhibit extensive clinical and immunologic heterogeneity, and many patients present with evidence of rheumatic diseases but do not fulfill classification criteria, resulting in patient uncertainty and delays in diagnosis and treatment. Several studies have defined distinct molecular signatures for patients with rheumatic diseases, with some overlap between patients diagnosed with different diseases. Therefore, molecular-based diagnoses may allow for more precise diagnosis, especially in patients of different races and gender, using unique clinical and serological features. Furthermore, patients with different rheumatic diseases may actually belong to a larger homogenous group, aiding treatment selection and discovery.

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Authors and Affiliations

  1. Arthritis and Clinical Immunology, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA

    Judith A. James & Catriona A. Wagner

  2. Departments of Medicine and Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA

    Judith A. James

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  1. Judith A. James
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  2. Catriona A. Wagner
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Correspondence to Judith A. James .

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Editors and Affiliations

  1. Weill Cornell Medicine, Hospital for Special Surgery, New York, NY, USA

    Michael D. Lockshin

  2. Weill Cornell Medicine, Hospital for Special Surgery, New York, NY, USA

    Mary K. Crow

  3. Weill Cornell Medicine, Hospital for Special Surgery, New York, NY, USA

    Medha Barbhaiya

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James, J.A., Wagner, C.A. (2022). Toward Molecular Diagnoses for Autoimmune Rheumatic Diseases. In: Lockshin, M.D., Crow, M.K., Barbhaiya, M. (eds) Diagnoses Without Names. Springer, Cham. https://doi.org/10.1007/978-3-031-04935-4_4

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