CO1 - Clinical and phenotypic characterisation of pulmonary sarcoidosis in Spain: a multicentre cluster analysis
Joel Francesqui (Spain)1; Elena Bollo (Spain)2; Ana Villar (Spain)3; Pablo Flórez (Spain)4; Eva Balcells (Spain)5; Gema Castaño (Spain)6; Erwin Javier Pinillos-Robles (Spain)7; Raúl Godoy-Mayoral (Spain)8; Belén López-Muñíz (Spain)9; María José Soler-Sampere (Spain)10; Diego Castillo (Spain)1; Albert Rafecas-Codern (Spain)1; Pablo Mariscal-Aguilar (Spain)11; Paloma Millan-Billi (Spain)12; Karina Portillo (Spain)12; Fernanda Hernandez-Gonzalez (Spain)13; Jacobo Sellares (Spain)13;
1 - Department of Respiratory Medicine and Allergy, Hospital de la Santa Creu i Sant Pau. Institut de Recerca Sant Pau (IR SANT PAU). Barcelona, Spain; 2 - Complejo Asistencial Universitario de León, León, Spain; 3 - Hospital Vall d'Hebrón, Barcelona, Spain; 4 - Hospital Universitario Príncipe de Asturias, Madrid, Spain.; 5 - Hospital del Mar, Barcelona, Spain; 6 - Hospital de Jarrio, Asturias, Spain; 7 - Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain; 8 - Complejo Hospitalario Universitario de Albacete, Albacete, Spain; 9 - Hospital Infanta Leonor, Madrid, Spain; 10 - Hospital General Universitario de Elche, Alicante, Spain; 11 - Hospital Universitario La Paz, Madrid, Spain; 12 - Hospital Universitari Germans Trias i Pujol, Barcelona, Spain.; 13 - Hospital Clínic Barcelona, WASOG Centre of Excellence, Barcelona, Spain.;
Keywords: Cluster Analysis; Phenotypes; Sarcoidosis;
Select the theme: Challenges in Sarcoidosis Diagnosis and Staging
Type: Original Papers
Presentation: Oral Communication

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.

Heatmap and hierarchical clustering of organ involvement patterns in sarcoidosisClinical, functional, radiological and treatment characteristics according to sarcoidosis clusters