Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2017 Dec 7;12(1):177.
doi: 10.1186/s13023-017-0730-1.

Health-related quality of life among adults with diverse rare disorders

Kathleen R Bogart  1 , Veronica L Irvin  2
Affiliations

Health-related quality of life among adults with diverse rare disorders

Kathleen R Bogart et al. Orphanet J Rare Dis. .

Abstract

Background: Twenty-five to 30 million Americans live with a rare disease (RD) and share challenges unique to RD. The majority of research on RDs has focused on etiology, treatment and care, while the limited health-related quality of life (HRQL) research has been restricted to single RDs, small samples, or non-validated measures. This study reports HRQL among adults with diverse RDs, and compares their scores to those of the U.S. population and people with common chronic health conditions.

Methods: We conducted a cross-sectional survey of adults living in the U.S. diagnosed with any RD. Participants were recruited through RD organizations and completed the online survey between December 2016 and May 2017 (n = 1218). HRQL was assessed using the standardized Patient-Reported Outcomes Measurement Information System (PROMIS). RDs were classified into categories defined by Orphanet. Means and 95% confidence intervals were calculated for the main sample and for RD categories and were compared to published U.S. population norms and common chronic disease norms. Intercorrelations were conducted between HRQL, demographics, and RD experiences.

Results: When compared to the norms for the U.S. population and for those with common chronic diseases, mean HRQL scores were significantly poorer across all six PROMIS domains for the main sample, and were usually poorer when analyzed by sub-sets of specific RD classifications. People with rare systemic and rheumatologic, neurological, and immune diseases had the poorest HRQL. Participants had poorer HRQL if they had multiple RDs, lower income, were female, or older. Having symptoms longer was associated with worse HRQL, however, having a formal diagnosis longer was associated with better HRQL.

Conclusions: This study is the first to examine HRQL in a large, heterogeneous sample of RDs using validated measures. There is a significant disparity in HRQL among people with RD compared to the general population and people with common chronic diseases. Poor HRQL could be attributed to challenges accessing diagnoses, medical information, treatment, psychosocial support, and coping with stigma and uncertainty. As most individuals with RDs will not be cured in their lifetimes, identifying ways to improve HRQL is crucial to patient-centered care and should be a funding priority.

Keywords: Anxiety; Depression; PROMIS; Quality of life; Rare disease; Rare disorder.

PubMed Disclaimer

Conflict of interest statement

Ethics approval and consent to participate

The Oregon State University Institutional Review Board approved study protocols and provided ethical oversight. Participants read a consent document explaining the study. Because a signature would be the only record linking the participants’ identity to the survey, a waiver of documentation of consent was issued.

Consent for publication

Not applicable.

Competing interests

The authors declare that they have no competing interests.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
PROMIS mean scores for main sample of persons with RD and by RD category. Error bars represent 95% CI. Black lines indicate U.S. population mean, and gray lines indicate means for common chronic diseases. [6, 18] Higher numbers mean higher amounts of the measured construct, so high scores on anxiety, depression, fatigue, and pain interference indicate poor HRQL, while low scores on physical function and ability to participate in social roles and activities means poor HRQL. Main sample n = 1218; neurologic n = 480; neoplastic n = 221; systemic and rheumatological n = 66; developmental anomalies n = 58; and immune n = 56
See this image and copyright information in PMC

References

    1. National Institutes of Health, Genetic and Rare Diseases Information Center: FAQs About Rare Diseases. https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-dise.... Accessed 27 Oct 2017.
    1. Orphanet: About rare diseases. http://www.orpha.net/consor/cgi-bin/Education_AboutRareDiseases.php?lng=EN. Accessed 24 Nov 2017.
    1. Limb L, Nutt S, Sen A. Experiences of rare diseases: an insight from patients and families. Rare disease UK. 2010. https://www.raredisease.org.uk/media/1594/rduk-family-report.pdf. Accessed 10 Apr 2016.
    1. Aymé S, Kole A, Groft S. Empowerment of patients: lessons from the rare diseases community. Lancet. 2008;371:2048–2051. doi: 10.1016/S0140-6736(08)60875-2. - DOI - PubMed
    1. EURORDIS: Rare diseases: understanding this public health priority. 2005. http://www.eurordis.org/IMG/pdf/princeps_document-EN.pdf. Accessed 9 July 2017.