How do general practitioners diagnose and refer potential rheumatic musculoskeletal complaints? A scoping review

Clinical Rheumatology, vol. 45, pp. 5179–5200

Abstract

Timely diagnosis and referral of rheumatic and musculoskeletal diseases (RMDs) remain challenging in primary care, with substantial diagnostic delays and a high proportion of rheumatology referrals involving patients without inflammatory rheumatic disease. To examine the diagnostic trajectory of patients presenting with RMD-related complaints, we conducted a scoping review. We defined the diagnostic trajectory as the sequence of diagnostic considerations, investigations, management decisions, and referrals from first presentation to diagnosis or specialist referral. Across 47 included studies, early presentations were heterogeneous and non-specific, often leading to repeated consultations and diagnostic revisions. The underlying condition was frequently not suspected initially, requiring multiple visits before it was considered. General practitioners demonstrated reasonable knowledge of inflammatory features, but documentation of these features in routine electronic health records was often incomplete. Laboratory and imaging investigations were widely used and strongly influenced decision-making, functioning as objective gatekeeping tools for referral despite limited diagnostic yield. Marked variation was found between countries in referral patterns and investigations used, suggesting an important role for healthcare system structure in shaping diagnostic trajectories. The evidence base was constrained by predominantly narrow disease-specific populations and few studies capturing the full diagnostic pathway from primary care presentation to specialist diagnosis.Overall, our findings indicate that delayed diagnosis of RMDs reflects knowledge gaps, the ambiguity of early disease, and reliance on objective investigations. Efforts to improve clinical decision-making for early diagnosis and timely referral require consideration of the non-specific, early-stage nature of RMDs in primary care, longitudinal clinical information, and differences between healthcare systems.

Authors 5

1. Georgy Gomon corresponding Aachen Department of Biomedical Data Sciences Department of Rheumatology, Leiden University Medical Centre

   Leiden University · Leiden University Medical Center

   Affiliation as printed

   Department of Biomedical Data Sciences, Leiden University Medical Centre, Leiden, The Netherlands. g.gomon@lumc.nl

   Department of Rheumatology, Leiden University Medical Centre, Leiden, The Netherlands. g.gomon@lumc.nl

2. Teresa Otón

   Instituto de Salud Musculoesquelética

   Affiliation as printed

   Instituto de Salud Musculoesquelética, Madrid, Spain

3. Loreto Carmona

   Instituto de Salud Musculoesquelética

   Affiliation as printed

   Instituto de Salud Musculoesquelética, Madrid, Spain

4. Saskia Le Cessie Aachen Department of Biomedical Data Sciences Department of Clinical Epidemiology

   Leiden University · Leiden University Medical Center

   Affiliation as printed

   Department of Biomedical Data Sciences, Leiden University Medical Centre, Leiden, The Netherlands

   Department of Clinical Epidemiology, Leiden University Medical Centre, Leiden, The Netherlands

5. Rachel Knevel Aachen Department of Rheumatology, Leiden University Medical Centre

   Leiden University · Leiden University Medical Center · Newcastle University · Delft University of Technology

   Affiliation as printed

   Delft Bioinformatics Lab, Delft University of Technology, Delft, The Netherlands

   Department of Rheumatology, Leiden University Medical Centre, Leiden, The Netherlands

   Rheumatology, Newcastle University Translational and Clinical Research Institute, Newcastle Upon Tyne, UK