Assessing the worldwide epidemiology of sarcoidosis: challenges and future directions

Cozier, Yvette C.

doi:10.1183/13993003.01819-2016

Cited by 47 publications

(29 citation statements)

References 33 publications

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“…Previous epidemiological surveys, such as the American ACCESS [2], the German-Swiss WATL [3] and the retrospective single-centre MUSC [15] studies, describe this clinical heterogeneity of sarcoidosis, and highlight an urgent need for further detailed clinical phenotypes to better understand the pathomechanisms of the disease and to plan future clinical therapeutic studies [16,17]. The GenPhenReSa (Genotype-Phenotype Relationship in Sarcoidosis) project, a European multicentre study designed to investigate the influence of genotypes on disease phenotypes in sarcoidosis, addresses this issue by the detailed characterisation of over 2000 European sarcoidosis patients.…”

Section: Introductionmentioning

confidence: 99%

Phenotypes of organ involvement in sarcoidosis

et al. 2018

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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.

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Section: Introductionmentioning

confidence: 99%

Phenotypes of organ involvement in sarcoidosis

et al. 2018

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“…ERN-LUNG is currently made up of 60 centres in 12 countries and is organised into nine core networks representing the diversity of diseases and conditions affecting the respiratory system (figure 2, table 2). The current core networks are interstitial lung diseases [5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21], cystic fibrosis [22][23][24][25], pulmonary hypertension [26][27][28][29][30][31], primary ciliary dyskinesia [32][33][34][35][36][37], non-cystic fibrosis bronchiectasis [38][39][40], α 1 -antitrypsin deficiency [41], mesothelioma [42], chronic lung allograft dysfunction [43][44][45] and "other rare lung diseases" (e.g. pulmonary malformations, congenital central hypoventilation syndrome etc) [46][47][48][49].…”

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confidence: 99%

Rare respiratory diseases are ready for primetime: from Rare Disease Day to the European Reference Networks

Humbert

Wagner

2017

Eur Respir J

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“…Ethnicity and latitude play a relevant role in sarcoidosis epidemiology, as remarkable differences in incidence estimates have been documented worldwide, even within the same country, with geographical variation according to regions. 4,10 African Americans and Northern Europeans are the most affected, while Asian populations exhibit the lowest annual incidence rates. In particular, recent large population-based studies reported an incidence rate of approximately 10 per 100,000 in Caucasians, 10,11 whereas the risk of developing sarcoidosis is almost four times higher in individuals of African descent, who usually experience a worse prognosis, due to a more aggressive disease with multiorgan impairment.…”

Section: Epidemiologymentioning

confidence: 99%

Pulmonary Sarcoidosis

Bonifazi

Gasparini

Alfieri

et al. 2017

Semin Respir Crit Care Med

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Sarcoidosis is a systemic granulomatous disorder of unknown etiology, with a predilection for the respiratory system, involved in more than 90% of cases, with considerable variability in terms of patterns and prognostic implications. A protean interplay between genetic susceptibility and antigen exposure in selected environmental contexts is likely to define not only the risk for disease but also the different clinical phenotypes. Advances in imaging and functional tests over the past decades have increasingly broadened the awareness of the wide spectrum of features potentially occurring in pulmonary sarcoidosis, while the evolution of diagnostic techniques in interventional pulmonology has increased the possibility of obtaining tissue characterization more easily, by means of ultrasound-guided tools and cryotechnology. However, histological proof is not always needed, as, in selected scenarios with compatible clinical and imaging picture, a confirmatory biopsy is perceived as redundant. The diagnostic workup should be tailored on a case-by-case basis, according to an integrated assessment of clinical features, local resources, and expertise availability. Owing to the heterogeneity of possible clinical scenarios and the paucity of evidence-based data on treatments, a standardized clinical management has yet to be established, and general approach usually reflects expert opinion from accumulated clinical data. Key elements of decision-making process are to assess the baseline severity of disease, to stratify the risk of progression, and to define the goals of treatment.

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Assessing the worldwide epidemiology of sarcoidosis: challenges and future directions

Cited by 47 publications

References 33 publications

Phenotypes of organ involvement in sarcoidosis

Phenotypes of organ involvement in sarcoidosis

Rare respiratory diseases are ready for primetime: from Rare Disease Day to the European Reference Networks

Pulmonary Sarcoidosis

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