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Article

PubMed

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Phenotypes of organ involvement in sarcoidosis

The European respiratory journal. 2018 Jan ; 51 (1) : . [epub] 20180125

Eur Respir J
ISSN 1399-3003 | 0903-1936
Source

Language English Country Great Britain, England Media electronic-print

Document type Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't

Persistent link https://www.medvik.cz/link/pmid29371378

PubMed 29371378
DOI 10.1183/13993003.00991-2017
PII: 51/1/1700991
Knihovny.cz E-resources

MeSH
Acute Disease MeSH
White People MeSH
Abdomen MeSH
Adult MeSH
Phenotype * MeSH
Genotype MeSH
Skin Diseases physiopathology MeSH
Skin physiopathology MeSH
Middle Aged MeSH
Humans MeSH
Lymph Nodes physiopathology MeSH
Joint Diseases physiopathology MeSH
Eye physiopathology MeSH
Eye Diseases physiopathology MeSH
Lung physiopathology MeSH
Lung Diseases physiopathology MeSH
Sarcoidosis diagnosis physiopathology MeSH
Aged MeSH
Tertiary Healthcare MeSH
Forced Expiratory Volume MeSH
Check Tag
Adult MeSH
Middle Aged MeSH
Humans MeSH
Male MeSH
Aged MeSH
Female MeSH
Publication type
Journal Article MeSH
Multicenter Study MeSH
Research Support, Non-U.S. Gov't MeSH
Geographicals
Europe MeSH

Sarcoidosis is a highly variable, systemic granulomatous disease of hitherto unknown aetiology. The GenPhenReSa (Genotype-Phenotype Relationship in Sarcoidosis) project represents a European multicentre study to investigate the influence of genotype on disease phenotypes in sarcoidosis.The baseline phenotype module of GenPhenReSa comprised 2163 Caucasian patients with sarcoidosis who were phenotyped at 31 study centres according to a standardised protocol.From this module, we found that patients with acute onset were mainly female, young and of Scadding type I or II. Female patients showed a significantly higher frequency of eye and skin involvement, and complained more of fatigue. Based on multidimensional correspondence analysis and subsequent cluster analysis, patients could be clearly stratified into five distinct, yet undescribed, subgroups according to predominant organ involvement: 1) abdominal organ involvement, 2) ocular-cardiac-cutaneous-central nervous system disease involvement, 3) musculoskeletal-cutaneous involvement, 4) pulmonary and intrathoracic lymph node involvement, and 5) extrapulmonary involvement.These five new clinical phenotypes will be useful to recruit homogenous cohorts in future biomedical studies.

1st Faculty of Medicine Charles University Prague Czech Republic

Aintree University Hospital Liverpool UK

Dept of Cardiology Pneumology Angiology and Intensive Care Medicine University Hospital Aachen Germany

Dept of Haematology and Oncology University Medical Centre Freiburg Germany

Dept of Internal Medicine Christian Albrechts Universität Kiel Germany

Dept of Pneumology Hannover Medical School Hannover Germany

Dept of Pneumology University Hospital Leipzig Germany

Dept of Pneumology University Medical Centre Faculty of Medicine Freiburg Germany

Dept of Pneumonology Oncology and Allergology Medical University of Lublin Lublin Poland

Dept of Pulmonology Medical University of Gdansk Gdansk Poland

Evangelische Lungenklinik Berlin Germany

Faculty of Medicine and Dentistry Palacký University Olomouc Czech Republic