Phenotypes of organ involvement in sarcoidosis

Schupp, Jonas Christian and Freitag-Wolf, Sandra and Bargagli, Elena and Mihailovic-Vucinic, Violeta and Rottoli, Paola and Grubanovic, Aleksandar and Mueller, Annegret and Jochens, Arne and Tittmann, Lukas and Schnerch, Jasmin and Olivieri, Carmela and Fischer, Annegret and Jovanovic, Dragana and Filipovic, Snezana and Videnovic-Ivanovic, Jelica and Bresser, Paul and Jonkers, Rene and O'Reilly, Kate and Ho, Ling-Pei and Gaede, Karoline I. and Zabel, Peter and Dubaniewicz, Anna and Marshall, Ben and Kieszko, Robert and Milanowski, Janusz and Guenther, Andreas and Weihrich, Anette and Petrek, Martin and Kolek, Vitezslav and Keane, Michael P. and O'Beirne, Sarah and Donnelly, Seamas and Haraldsdottir, Sigridur Olina and Jorundsdottir, Kristin B. and Costabel, Ulrich and Bonella, Francesco and Wallaert, Benoit and Grah, Christian and Peros-Golubicic, Tatjana and Luisetti, Mauritio and Kadija, Zamir and Pabst, Stefan and Grohe, Christian and Strausz, Janos and Vasakova, Martina and Sterclova, Martina and Millar, Ann and Homolka, Jiri and Slovakova, Alena and Kendrick, Yvonne and Crawshaw, Anjali and Wuyts, Wim and Spencer, Lisa and Pfeifer, Michael and Valeyre, Dominique and Poletti, Venerino and Wirtz, Hubertus and Prasse, Antje and Schreiber, Stefan and Krawczak, Michael and Mueller-Quernheim, Joachim (2018) Phenotypes of organ involvement in sarcoidosis. EUROPEAN RESPIRATORY JOURNAL, 51 (1): 1700991. ISSN 0903-1936, 1399-3003

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Abstract

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.

Item Type: Article
Uncontrolled Keywords: INFLAMMATORY-BOWEL-DISEASE; EPIDEMIOLOGY; RISK; PREVALENCE; INSTRUMENT; COHORT; JAPAN;
Subjects: 600 Technology > 610 Medical sciences Medicine
Divisions: Medicine > Lehrstuhl für Innere Medizin II
Depositing User: Dr. Gernot Deinzer
Date Deposited: 20 Mar 2020 12:19
Last Modified: 20 Mar 2020 12:19
URI: https://pred.uni-regensburg.de/id/eprint/15440

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