rfhealthЗдравоохранение Российской ФедерацииHealth care of the Russian Federation0044-197X2412-0723Federal Scientific Center of Hygiene named after F.F. Erisman10.47470/0044-197X-2025-69-1-41-46xrzxaerfhealth-1781Research ArticleОРГАНИЗАЦИЯ ЗДРАВООХРАНЕНИЯHEALTH CARE ORGANIZATIONОказание медико-социальной помощи пациентам с орфанными заболеваниями (обзор литературы)Providing medical and social care to patients with orphan diseases (literature review)https://orcid.org/0000-0001-7757-318XГрибковаИрина ВладимировнаGribkovaIrina V.

Канд. биол. наук, вед. науч. сотр. отдела исследований общественного здоровья ГБУ НИИОЗММ ДЗМ, 115088, Москва, Россия

e-mail: igribkova@yandex.ru

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

igribkova@yandex.ruГБУ города Москвы «Научно-исследовательский институт организации здравоохранения и медицинского менеджмента Департамента здравоохранения города Москвы»РоссияResearch Institute for Healthcare Organization and Medical Management of Moscow Healthcare DepartmentRussian Federation2025260220256914146Copyright © Грибкова И.В., 20252025Грибкова И.В.Gribkova I.V.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.rfhealth.ru/jour/article/view/1781

Редкие (орфанные) заболевания (РЗ) — заболевания, которыми страдает небольшая часть населения. Однако, несмотря на то что каждое РЗ поражает малое количество людей, все они в совокупности образуют большую субпопуляцию. В настоящее время в мире известно до 8000 РЗ, что затрагивает примерно 6–8% жителей планеты. Редкие заболевания требуют особого подхода со стороны здравоохранения. И хотя во многих странах уже реализуются широкие возможности для поддержки пациентов и их семей, остаются проблемы и неудовлетворённые потребности. Для дальнейшего улучшения качества жизни, связанного со здоровьем, пациентов, страдающих от РЗ, важно выявить общие закономерности в существующих проблемах и нуждах этой категории граждан.

Цель обзора — анализ современных исследований проблем и потребностей пациентов с РЗ и их семей. Мы провели поиск литературы по психосоциальным вопросам у пациентов с РЗ в PubMed и Google Scholar.

Результаты показали, что основными проблемами и потребностями были вопросы диагностики (длительный период времени до постановки диагноза, наличие ошибок, необходимость посещения большого количества врачей для постановки окончательного диагноза, сам процесс объявления результатов), отсутствие или недостаточность психологической помощи, неудовлетворительное материальное обеспечение, плохая осведомлённость о заболевании и существующих мерах поддержки. В работе также высказаны предложения по дальнейшему развитию служб системы здравоохранения, оказывающих помощь и поддержку пациентов с РЗ и их семей, с целью решения данных проблем и удовлетворения соответствующих потребностей.

Финансирование

Финансирование. Исследование не имело спонсорской поддержки.

Конфликт интересов

Конфликт интересов. Автор декларирует отсутствие явных и потенциальных конфликтов интересов в связи с публикацией данной статьи.

Поступила

Поступила: 24.01.2024 / Принята к печати: 19.03.2024 / Опубликована: 28.02.2025

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

Acknowledgment. The study had no sponsorship.

Conflict of interest

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

Received

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

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The authors declare that there are no conflicts of interest present.