Introduction: Sarcoidosis is a systemic granulomatous disease with a heterogeneous clinical presentation that varies according to ethnicity and geographic region. Evidence from Spain remains limited, and clinical phenotypes are not fully characterised.
Objectives: This study aimed to describe the clinical and demographic characteristics of a Spanish multicentre cohort of patients with pulmonary sarcoidosis and to identify distinct disease phenotypes using cluster analysis.
Materials and Methods: We conducted a multicentre retrospective observational study including patients with pulmonary sarcoidosis from 13 hospitals across Spain. Clinical, demographic and functional data were collected at diagnosis and during a follow-up up to five years. Cluster analysis based on organ involvement was performed using hierarchical clustering with Jaccard distance and Ward’s linkage method.
Results: A total of 765 patients with pulmonary sarcoidosis were included. The mean age at diagnosis was 47.8 ± 14.5 years and 57.8% were female. Most patients were Caucasian (80.6%), and the most frequent radiological presentation at diagnosis was Scadding stage II (47.2%). The five-year mortality rate was 5.6%. Pulmonary function remained relatively stable during follow-up, whereas fibrotic changes on CT increased over time. Cluster analysis was performed in 628 patients and identified five distinct clinical phenotypes: pulmonary-dominant, multisystem inflammatory, articular, cutaneous and extrapulmonary lymph node. Mortality differed across clusters, being highest in the multisystem inflammatory cluster (7.8%) and lowest in the articular (1.2%) and cutaneous clusters (1.6%).
Conclusions: In this multicentre Spanish cohort, cluster analysis identified five distinct clinical phenotypes of sarcoidosis, highlighting the heterogeneity of the disease. Pulmonary-dominant and multisystem phenotypes emerged as core patterns of disease expression. These findings support phenotype-driven approaches for personalised management in sarcoidosis.