Providing medical and social care to patients with orphan diseases (literature review)

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Abstract

Rare (orphan) diseases (RD) are diseases that affect a small part of the population. However, although each disease affects a small number of people, they collectively form a large subpopulation. Currently, there are up to 8,000 rare diseases known in the world, affecting approximately 6–8% of the planet’s population. Rare diseases require a special approach from healthcare. Although many countries around the world are already implementing significant opportunities to support patients and their families, challenges and unmet needs remain. To further improve the health-related quality of life of RD patients, it is important to identify common patterns in the existing problems and needs of this category of citizens.

The purpose of this work was to analyze modern studies conducted in developed countries of the world, based on surveys of patients with various RD and their families about existing problems and needs.

We searched PubMed and Google Scholar for literature on psychosocial issues in RD patients. The results showed the main problems and needs to be diagnostic issues (long period of time before diagnosis, presence of errors, need to visit a large number of doctors to make a final diagnosis, the process of announcing the results), lack or inadequacy of psychological support, unsatisfactory material support, poor awareness of the disease and existing health care support. The work also makes proposals for the further development of health care services that provide assistance and support to RD patients and their families, to solve these problems and meet the corresponding needs.

Acknowledgment. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: January 24, 2024 /Accepted: March 19, 2024 / Published: February 28, 2025

About the authors

Irina V. Gribkova

Research Institute for Healthcare Organization and Medical Management of Moscow Healthcare Department

Author for correspondence.
Email: igribkova@yandex.ru
ORCID iD: 0000-0001-7757-318X

PhD, leading researcher, Department of Public Health Research, Research Institute for Healthcare Organization and Medical Management of Moscow Healthcare Department, Moscow, 115088, Russian Federation

e-mail: igribkova@yandex.ru

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