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.

Fatigue is associated with quality of life in sarcoidosis patientsMichielsen, H.J.; Drent, M.; Peros-Golubicic, T.; de Vries, J. Published in: Chest Document version:Publisher's PDF, also known as Version of record Publication date: 2006 Link to publication Citation for published version (APA):Michielsen, H. J., Drent, M., Peros-Golubicic, T., & de Vries, J. (2006). Fatigue is associated with quality of life in sarcoidosis patients. Chest, 130(4), 989-994. General rightsCopyright and moral rights for the publications made accessible in the public portal are retained by the authors and/or other copyright owners and it is a condition of accessing publications that users recognise and abide by the legal requirements associated with these rights.-Users may download and print one copy of any publication from the public portal for the purpose of private study or research -You may not further distribute the material or use it for any profit-making activity or commercial gain -You may freely distribute the URL identifying the publication in the public portal Take down policyIf you believe that this document breaches copyright, please contact us providing details, and we will remove access to the work immediately and investigate your claim. Michielsen, PhD; Marjolein Drent, MD, PhD; Tatjana Peros-Golubicic, MD, PhD; and Jolanda De Vries, PhD, MSc Background: Fatigue is one of the core symptoms of sarcoidosis patients. Although it is known that fatigue affects quality of life (QOL) in other patient groups, this relationship has never been studied in sarcoidosis patients using a reliable and valid fatigue scale and a multidimensional QOL instrument. The present cross-sectional study among sarcoidosis patients attempts to gain more insight into this relationship.

Diffuse pulmonary ossification is still underrecognized during life. Its relevance concerning the increasing age of population and longer survival of patients with chronic diseases is underrated. A timely diagnosis will enable a better understanding of pathogenesis and natural course of disease thus paving the way to new therapeutic strategies.

Background: As sarcoidosis is a multisytemic disorder, patients may suffer from various symptoms. The relationship between frequently reported symptoms and quality of life (QOL) has not yet been studied. Objectives: The aim of the present cross-sectional study was to examine the predictive value of the most frequently reported subjective symptoms on QOL after controlling for demographic variables and clinical parameters. Methods: A cross-sectional study was conducted at an outpatient pulmonary clinic in Zagreb, Croatia. One hundred and fifty outpatients with sarcoidosis were seen between January 2002 and May 2004. Symptoms were assessed with a symptom inventory questionnaire, and QOL was measured using the World Health Organization Quality of Life Assessment Instrument. Clinical parameters were derived from the patients’ medical files. Regression analyses were performed to examine the predictive value of symptoms on QOL. Results: The four most frequently mentioned symptoms were fatigue, breathlessness, reduced exercise capacity and arthralgia. In various combinations, being female, using corticosteroids and fatigue predicted the QOL domains physical and psychological health as well as level of independence. Con- clusions: Fatigue appeared to be the most important symptom in predicting various QOL domains after controlling for demographics, disease stage and clinical parameters. Therefore, considering improvement in the patients’ QOL, it is recommended to focus not only on objective health parameters, but also on fatigue in the management of sarcoidosis.