Background: Early diagnosis is pivotal for guiding the intensity of clinical monitoring, optimizing therapeutic strategies and preventing organ damage in inflammatory and autoimmune rheumatic diseases (IARDs). This review summarizes current evidence on early diagnostic and therapeutic approaches of some IARDs, including rheumatoid arthritis (RA), systemic sclerosis (SSc) and detection of large-vessel vasculitis (LVV) in polymyalgia rheumatica (PMR), representing distinct pathophysiological mechanisms of joint synovitis, tissue fibrosis and vasculitis, respectively. Methods: A comprehensive narrative literature review was conducted focusing on early recognition strategies, searching PubMed and Scopus databases with emphasis on studies from the past 5 years and recent EULAR/ACR conference abstracts (2023–2025). Results: In RA, clinically suspect arthralgia with seropositivity for rheumatoid factor and anti-citrullinated peptide antibodies significantly increases progression risk to definite RA. Musculoskeletal ultrasound detects subclinical synovitis in 44%–51% of high-risk individuals, while MRI identifies bone marrow edema predicting erosive progression. Abatacept significantly reduces RA development in seropositive individuals at high risk of RA. In SSc, Raynaud's phenomenon combined with SSc-specific autoantibodies and abnormal nailfold capillaroscopy predicts progression to definite disease, with 79.5% developing SSc within 4.6 years. LeRoy's criteria, validated by Koenig, enables early identification, though evidence for disease-modifying interventions in preclinical stages remains limited. For PMR, imaging reveals subclinical LVV in 16%–23% of patients without cranial symptoms. Subclinical LVV associates with higher relapse rates in retrospective studies, though optimal management approaches require prospective validation. Conclusions: Advances in early IARD recognition through refined clinical criteria, enhanced biomarkers and imaging enable risk stratification and personalized management. While intervention strategies show promise, particularly in RA, optimal patient selection and treatment protocols require further research.
A matter arising: When should inflammatory and autoimmune rheumatic diseases be considered ‘early’?
Hysa, Elvis;Gotelli, Emanuele;Pizzorni, Carmen;Paolino, Sabrina;Sulli, Alberto;Campitiello, Rosanna;Cutolo, Maurizio
2025-01-01
Abstract
Background: Early diagnosis is pivotal for guiding the intensity of clinical monitoring, optimizing therapeutic strategies and preventing organ damage in inflammatory and autoimmune rheumatic diseases (IARDs). This review summarizes current evidence on early diagnostic and therapeutic approaches of some IARDs, including rheumatoid arthritis (RA), systemic sclerosis (SSc) and detection of large-vessel vasculitis (LVV) in polymyalgia rheumatica (PMR), representing distinct pathophysiological mechanisms of joint synovitis, tissue fibrosis and vasculitis, respectively. Methods: A comprehensive narrative literature review was conducted focusing on early recognition strategies, searching PubMed and Scopus databases with emphasis on studies from the past 5 years and recent EULAR/ACR conference abstracts (2023–2025). Results: In RA, clinically suspect arthralgia with seropositivity for rheumatoid factor and anti-citrullinated peptide antibodies significantly increases progression risk to definite RA. Musculoskeletal ultrasound detects subclinical synovitis in 44%–51% of high-risk individuals, while MRI identifies bone marrow edema predicting erosive progression. Abatacept significantly reduces RA development in seropositive individuals at high risk of RA. In SSc, Raynaud's phenomenon combined with SSc-specific autoantibodies and abnormal nailfold capillaroscopy predicts progression to definite disease, with 79.5% developing SSc within 4.6 years. LeRoy's criteria, validated by Koenig, enables early identification, though evidence for disease-modifying interventions in preclinical stages remains limited. For PMR, imaging reveals subclinical LVV in 16%–23% of patients without cranial symptoms. Subclinical LVV associates with higher relapse rates in retrospective studies, though optimal management approaches require prospective validation. Conclusions: Advances in early IARD recognition through refined clinical criteria, enhanced biomarkers and imaging enable risk stratification and personalized management. While intervention strategies show promise, particularly in RA, optimal patient selection and treatment protocols require further research.
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