Depression and anxiety in patients with different rare chronic diseases: A cross-sectional study

PLoS One. 2019 Feb 20;14(2):e0211343. doi: 10.1371/journal.pone.0211343. eCollection 2019.


Objective: Empirical evidence on depression and anxiety in patients with rare diseases is scarce but can help improve comprehensive treatment. The objectives of this study were to investigate the frequency of depression and anxiety in this heterogeneous population and to examine aspects associated with increased psychopathology.

Methods: N = 300 patients with 79 different rare diseases (female:80%, age:M = 44.3(12.8), range:16-74 years) participated in a cross-sectional online study. We determined the percentages of patients reporting elevated depression (PHQ-9) and anxiety (GAD-7) scores. We calculated two linear regressions with depression and anxiety as outcomes. Predictor variables were diagnosis-related aspects (diagnosis assigned to ICD-10 chapter, visibility of symptoms, time since diagnosis, comorbid diseases), perceived somatic-symptom-severity (PHQ-15), illness-perceptions (consequences, control, identity, concern, understanding and treatment control; B-IPQ-R), coping mechanisms (constructive attitudes, active engagement in life) and social support (heiQ). We controlled for gender, age and depression or anxiety depending on the outcome.

Results: 42% of the patients (95%CI [36.41%,47.59%]) reported depression scores indicating moderately or severely elevated symptom levels. Regarding anxiety, this applies to 23% (95%CI [18.54%,28.06%]). Variables significantly associated with depression were higher perceived somatic-symptom-severity (B = 0.41,p < .001), less control (B = .17,p < .05), lower levels of concern (B = -0.32,p < .01) and less constructive attitudes (B = -1.40,p < .001). No diagnosis-related variables were associated with depression. Variables significantly associated with anxiety were diseases of the circulatory system compared to congenital malformations (B = 1.88,p < .05), less consequences (B = -0.32,p < .05) and more concern (B = -0.32,p < .01).

Conclusion: The data reveal first insights into depression and anxiety in patients with different rare diseases. High percentages of patients showed clinically relevant symptom burden. No diagnosis-related differences were found in depression while anxiety seems to be particularly frequent in patients with rare diseases of the circulatory system. Besides perceived somatic symptom severity, cognitive appraisal seems to be linked to depression. Supporting patients in coping with their disease may help reduce psychopathology and therefore improve overall health.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Anxiety / etiology*
  • Chronic Disease
  • Cross-Sectional Studies
  • Depression / etiology*
  • Female
  • Humans
  • Internet
  • Linear Models
  • Male
  • Middle Aged
  • Rare Diseases / complications
  • Rare Diseases / diagnosis*
  • Rare Diseases / pathology
  • Self Report
  • Severity of Illness Index
  • Surveys and Questionnaires
  • Young Adult

Grants and funding

The Robert Bosch Stiftung provided funding for this study in the form of salaries for authors [NU] but did not play a role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript. The foundation only provided financial support in the form of authors’ salaries and research materials.