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

ObjectiveEmpirical 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.MethodsN = 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.Results42% 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 ConclusionThe 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

Supportive care needs of patients with rare chronic diseases: multi-method, cross-sectional study

Background: In the absence of a cure for the majority of rare diseases, the disease management aims to provide optimal supportive care. The goal of this study was to assess supportive care needs in patients with chronic rare diseases. Methods: A cross-sectional mixed-method study was conducted using validated self-report scales and open-ended questions to assess supportive care needs. Participants affected by rare diseases across Germany were contacted via patient organizations and centers for rare diseases. N=304 participants with 81 different rare diseases completed the study, 81.6% were female, mean age was 44.2 years (SD=12.8, range 16-74). The quantitative results regarding supportive care needs were compared to a reference population of patients affected by cancer (N=888). Main outcomes were unmet supportive care needs of patients with rare diseases, as assessed by the Supportive Care Needs Survey (SNCS-SF34) and an open-ended question on support wishes. Results: Patients with rare diseases did not feel sufficiently supported with regard to psychological support, health system and information, physical and daily living, patient care and support, and sexuality needs. The unmet supportive care needs were significantly higher in the patient sample with rare diseases compared to the SCNS-SF34 reference sample of patients with cancer. 60% of patients with rare diseases did not feel sufficiently socially supported. Conclusions: Patients affected by rare diseases have high unmet support needs in all areas studied. Multidisciplinary care, including psychological support and the provision of information regarding the healthcare system, treatment options, disease course and sexuality, might help address these needs

Confidence in treatment is contributing to quality of life in autoimmune liver diseases. The results of ERN RARE-LIVER online survey

BACKGROUND AND AIMS: Autoimmune liver diseases (AILDs) are associated with impaired health-related quality of life (HrQoL). The aim of this project was to identify potentially modifiable factors related to HrQoL in a large transnational cohort of patients with AILDs. METHODS: A cross-sectional online survey was conducted on patients with autoimmune hepatitis (AIH), primary biliary cholangitis (PBC) or primary sclerosing cholangitis from 15 European countries. HrQoL was measured with EQ-5D-5L and EQ visual analogue scale (EQ-VAS) and analysed in relation to demographic, psychosocial, disease- and treatment-related factors. A Patient Health Questionnaire-2 score >3 indicated relevant depression. Multivariable linear regression analyses were used to identify potentially modifiable factors associated with HrQoL and confidence in treatment whilst adjusting for known confounders. RESULTS: A group of 1178 European patients (79% female, mean age 48 ± 14 years) participated in the study. HrQoL was impaired in all three diseases (mean EQ-5D-5L = 0.75, mean EQ VAS = 68.9), most markedly in PBC (mean EQ-5D-5L = 0.73, mean EQ-VAS = 66.2). Relevant depression, which was detected in 17% of patients, was prominently associated with impaired HrQoL. In the regression analysis, treatment confidence was identified as an important modifiable factor positively contributing to HrQoL. This influence was observable even after adjusting for other covariates including depression. Management in a transplant centre, treatment with azathioprine in AIH, and with ursodeoxycholic acid in PBC, was associated with increased treatment confidence. Finally, improved patient-physician relationships contributed to treatment confidence. CONCLUSION: Treatment confidence is a relevant modifiable determinant of HrQoL and should be further investigated to improve the standards of care for patients with AILDs