Abstract
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.
The Epidemiology of Sarcoidosis (EpiSarc) study is a French retrospective multicentre study. Sarcoidosis patients were identified through national hospitalisation records using appropriate codes from 11 hospital centres between 2013 and 2016 according to a standardised protocol. Medical charts were reviewed. The phenotypes of sarcoidosis were defined using a hierarchical cluster analysis.
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) erythema nodosum, joint involvement and hilar lymph nodes (n=180); 2) eye, neurological, digestive and kidney involvement (n=137); 3) pulmonary involvement with fibrosis and heart involvement (n=630); 4) lupus pernio and a high percentage of severe involvement (n=41); and 5) hepatosplenic, peripheral lymph node and bone involvement (n=249). Phenotype 1 was associated with being European/Caucasian and female and with non-manual work, phenotype 2 with being European/Caucasian, and phenotypes 3 and 5 with being non-European/Caucasian. The labour worker proportion was significantly lower in phenotype 5 than in the other phenotypes.
This multicentre study confirms the existence of distinct phenotypes of sarcoidosis, with a non-random distribution of organ involvement. These phenotypes differ according to sex, geographical origin and socioprofessional category.
Abstract
There are five distinct phenotypes of sarcoidosis, with a non-random distribution of organ involvement. These five phenotypes differ according to sex, geographical origin and socioprofessional category. https://bit.ly/3iCurZK
Footnotes
Author contributions: I. Annesi-Maesano, H. Nunes, D. Valeyre, Z. Amoura and F. Cohen Aubart designed the study. R. Lhote, R. Borie, K. Sacré, N. Schleinitz, D. Launay, H. Devilliers, P. Bonniaud, M. Hamidou, M. Mahevas, F. Lhote, J. Haroche and F. Cohen Aubart collected the data. R. Lhote, I. Annesi-Maesano and F. Cohen Aubart conducted the statistical analysis. R. Lhote, I. Annesi-Maesano, H. Nunes, D. Valeyre and F. Cohen Aubart analysed and interpreted the data. R. Lhote, I. Annesi-Maesano and F. Cohen Aubart wrote the manuscript. All authors critically reviewed and approved the final version of the manuscript.
Conflict of interest: R. Lhote has nothing to disclose.
Conflict of interest: I. Annesi-Maesano has nothing to disclose.
Conflict of interest: H. Nunes has nothing to disclose.
Conflict of interest: D. Launay has nothing to disclose.
Conflict of interest: R. Borie has nothing to disclose.
Conflict of interest: K. Sacré has nothing to disclose.
Conflict of interest: N. Schleinitz has nothing to disclose.
Conflict of interest: M. Hamidou has nothing to disclose.
Conflict of interest: M. Mahevas has nothing to disclose.
Conflict of interest: H. Devilliers has nothing to disclose.
Conflict of interest: P. Bonniaud has nothing to disclose.
Conflict of interest: F. Lhote has nothing to disclose.
Conflict of interest: J. Haroche has nothing to disclose.
Conflict of interest: P. Rufat has nothing to disclose.
Conflict of interest: Z. Amoura has nothing to disclose.
Conflict of interest: D. Valeyre has nothing to disclose.
Conflict of interest: F. Cohen Aubart has a patent pending for IL-6 antagonists as a treatment of sarcoidosis.
Support statement: R. Lhote was supported by Master and PhD grants of the Open Health Institute, the Fondation pour la Recherche Médicale (FRM) and Gérard Trouillet S.A. Funding information for this article has been deposited with the Crossref Funder Registry.
- Received April 13, 2020.
- Accepted August 10, 2020.
- Copyright ©ERS 2021