Date Published: February 20, 2019
Publisher: Public Library of Science
Author(s): Natalie Uhlenbusch, Bernd Löwe, Martin Härter, Christoph Schramm, Christina Weiler-Normann, Miriam K. Depping, Kenji Hashimoto.
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.
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.
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). 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.
Rare diseases are a group of diseases defined by a low prevalence (<1:2000) and characterized by a great heterogeneity . Worldwide, there are around 7000 different rare diseases varying tremendously in their clinical appearance, course and etiology. In spite of the heterogeneity of rare conditions, there may also be shared burdens among different rare diseases. The majority of rare diseases are complex, chronic, progressive, degenerative, often life-threatening and go hand in hand with reduced quality of life . In addition, access to adequate care is often limited and information about the diseases is often sparse due to the rarity of each condition . Furthermore, delay in diagnosis often results in negative experiences such as frustration and self-doubt . Another shared experience among patients with different rare diseases may be the psychopathological burden since chronic illness, in general, is often associated with depression and anxiety . Scientific publications on psychopathology in patients with rare diseases are scarce. However, reports of stakeholders such as patient organizations or pharmaceutical companies indicate high psychological burden of rare diseases and increased psychopathology levels [4, 5]. Some further studies showed increased levels of depression and anxiety in patients with specific rare diseases, for instance in pulmonary arterial hypertension  or Marfan syndrome , whereas a few studies did not, for instance in patients with hereditary primary immunodeficiency . The majority of those studies are either case reports or quantitative studies with small sample sizes focusing on one specific rare disease. In conclusion, current empirical research about depressive and anxious syndromes in patients with rare diseases is limited. In the absence of a medical cure for the majority of rare diseases , targeting depression and anxiety in treatment can be critical for the quality of life in this group of patients. Further research is therefore needed to better understand depression and anxiety in this patient population in order to improve overall health. To the best of our knowledge, this is the first study empirically investigating the frequency of as well as aspects associated with depression and anxiety in patients with different rare chronic diseases. High percentages of the patients showed a clinically relevant degree of symptom burden, reporting at least moderately or severely elevated levels in both depression (42%) and anxiety (23%). This is in line with previous studies on depression and anxiety in more common chronic diseases  and empirically supports the high psychological burden of rare diseases stressed by stakeholders such as patient organisations [4, 5]. The high correlation between depression and anxiety is in line with existing research showing that depression and anxiety disorders are frequently co-occurring [39, 40]. This study provides a first insight into depression and anxiety and associated variables in a heterogeneous rare disease sample. Our results show that a high percentage of the patients experience depression and anxiety to a clinically relevant degree. Source: http://doi.org/10.1371/journal.pone.0211343