Abstract
Background Sarcoidosis is a rare disease of unknown cause with wide heterogeneity in clinical features and outcomes. We aimed to explore sarcoidosis phenotypes and their clinical relevance with particular attention to extrapulmonary subgroups.
Patients and methods The EpiSarc (Epidemiology of Sarcoidosis) study is a French retrospective multicenter study. Sarcoidosis patients were identified through national hospitalisation records using appropriate codes from 11 hospital centers between 2013 and 2016 according to a standardised protocol. Medical charts were reviewed. The phenotypes of sarcoidosis were defined using a hierarchical cluster analysis.
Results A total of 1237 patients were included (562 men and 675 women). The mean age at sarcoidosis diagnosis was 43.5±13 years. Hierarchical cluster analysis identified five distinct phenotypes according to organ involvement and disease type and symptoms: 1) (n=180) erythema nodosum, joint involvement and hilar lymph nodes; 2) (n=137) eye, neurological, digestive and kidney involvement; 3) (n=630) pulmonary involvement with fibrosis and heart involvement; 4) (n=41) lupus pernio and a high percentage of severe involvement; and 5) (n=249) hepatosplenic, peripheral lymph node and bone involvement. Phenotype 1 was associated with being European and female and with nonmanual work; phenotype 2 with being European; and phenotypes 3 and 5 with being non-European. The labor worker proportion was significantly lower in phenotype 5 than in the other phenotypes.
Answer to the question This multicenter study confirms the existence of distinct phenotypes of sarcoidosis, with a nonrandom distribution of organ involvement. These phenotypes differ according to gender, geographical origin and socioprofessional categories.
Footnotes
This manuscript has recently been accepted for publication in the European Respiratory Journal. It is published here in its accepted form prior to copyediting and typesetting by our production team. After these production processes are complete and the authors have approved the resulting proofs, the article will move to the latest issue of the ERJ online. Please open or download the PDF to view this article.
Conflict of interest: Dr. Lhote has nothing to disclose.
Conflict of interest: Dr. Annesi-Maesano has nothing to disclose.
Conflict of interest: Dr. Nunes has nothing to disclose.
Conflict of interest: Dr. Launay has nothing to disclose.
Conflict of interest: Dr. Borie has nothing to disclose.
Conflict of interest: Dr. Sacre has nothing to disclose.
Conflict of interest: Dr. Schleinitz has nothing to disclose.
Conflict of interest: Dr. Hamidou has nothing to disclose.
Conflict of interest: Dr. Mahevas has nothing to disclose.
Conflict of interest: Dr. Devilliers has nothing to disclose.
Conflict of interest: Dr. Bonniaud has nothing to disclose.
Conflict of interest: Dr. Lhote has nothing to disclose.
Conflict of interest: Dr. Haroche has nothing to disclose.
Conflict of interest: Dr. Rufat has nothing to disclose.
Conflict of interest: Dr. Amoura has nothing to disclose.
Conflict of interest: Dr. Valeyre has nothing to disclose.
Conflict of interest: Dr. Cohen Aubart reports In addition, Dr. Cohen Aubart has a patent IL-6 antagonists as a treatment of sarcoidosis pending.
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- Received April 13, 2020.
- Accepted August 10, 2020.
- Copyright ©ERS 2020