{
  "abstract": "Introduction Systemic sclerosis (SSc) is an autoimmune disease characterized by vascular dysfunction, immune dysregulation, and fibrosis. Its varied clinical presentation complicates timely diagnosis and treatment. Early clustering attempts provided insights into disease heterogeneity. This study applied a novel clustering approach to define clinical subgroups and compare patient journey.Material and Methods Data were collected from SSc patients and their rheumatologists across USA, France, Germany, Italy, Spain, UK, and Japan (Q1–Q3 2022). Physicians completed patient record forms and patients completed self-completion forms. Individuals in clinical trials were excluded. Latent class cluster analysis was performed using five physician-reported variables at data collection: body areas affected, symptoms, severity, number of flares in the last 12 months, and remission status. A cluster solution was selected based on clinical interpretability and statistical model fit (Akaike and Bayesian Information Criterion). Time from symptom onset to diagnosis, first symptoms, and disease progression were analysed across clusters.Results Among 1,906 patients, four clinical clusters were identified, representing a continuum of severity. All clusters included >75% females and >50% patients with limited cutaneous SSc. Clusters 1 and 2 included younger patients with fewer comorbidities.Regarding the patient journey to diagnosis, Raynaud’s phenomenon (RP) was the most common first symptom (physician-reported: 73–85%; patient-reported: 61–77%). Patients with non-RP versus RP-first symptoms were diagnosed more quickly, after an average of 1.03 versus 1.61 years, respectively, despite being older at symptom onset (physician-reported). Clusters 2 and 4 had higher musculoskeletal involvement, with more joint pain, stiffness, and/or swelling reported by patients (as first symptoms) and physicians (at diagnosis) compared with clusters 1 and 3. Clusters 3 and 4 had greater internal organ involvement, with gastrointestinal problems/heartburn reported by patients (as first symptoms) and gastroesophageal reflux disease reported by physicians (at diagnosis), compared with clusters 1 and 2. Post-diagnosis (3.7–7.2 years), the physician-reported mean number of symptoms and affected body areas decreased in cluster 1, increased in cluster 4, and remained relatively stable in clusters 2 and 3. In the 2 years post-diagnosis, more patients in clusters 1 and 2 had physician-reported improvements in disease progression (33–34%) versus clusters 3 and 4 (8–19%).Conclusions This analysis highlights variation in the SSc diagnostic experience across patient subtypes. Clusters linked to severe disease could be identified early based on symptom profiles, supporting subtype-driven strategies to improve early recognition and diagnosis of high-risk patients.",
  "authors": [
    {
      "affiliations": [
        "Department of Internal Medicine, University of Michigan Scleroderma Clinic, Ann Arbor, USA"
      ],
      "name": "Dinesh Khanna"
    },
    {
      "affiliations": [
        "Therapeutic Area Inflammation, Boehringer Ingelheim Pharmaceuticals, Inc., Ridgefield, USA"
      ],
      "name": "Mario Ehlers"
    },
    {
      "affiliations": [
        "Therapeutic Area Inflammation, Boehringer Ingelheim International GmbH, Ingelheim am Rhein, Germany"
      ],
      "name": "Lizette Moros"
    },
    {
      "affiliations": [
        "Therapeutic Area Mental and Eye Health, Boehringer Ingelheim International GmbH, Ingelheim am Rhein, Germany"
      ],
      "name": "Arpit Misra"
    },
    {
      "affiliations": [
        "Cross Therapeutic Area Marketing and Operations, Boehringer Ingelheim International GmbH, Ingelheim am Rhein, Germany"
      ],
      "name": "Hyemin Song"
    },
    {
      "affiliations": [
        "Adelphi Real World, Bollington, UK"
      ],
      "name": "Isabel Truman"
    },
    {
      "affiliations": [
        "Adelphi Real World, Bollington, UK"
      ],
      "name": "Liane Gillespie-Akar"
    },
    {
      "affiliations": [
        "University of Leeds, Leeds, UK"
      ],
      "name": "Francesco Del Galdo"
    }
  ],
  "title": "P.382 Mapping the journey to diagnosis in systemic sclerosis: a real-world cluster-based analysis",
  "uid": "df324314-cdfd-5d0f-8f1a-9922a06f39f9"
}