Integración de las enfermedades huérfanas/raras (EHR) en los planes locales/territoriales de salud de Colombia: revisión sistemática exploratoria

IF 0.5 Q3 Health Professions

Revista Colombiana de Reumatologia Pub Date : 2026-04-01 Epub Date: 2026-02-04 DOI:10.1016/j.rcreu.2026.504862

Diego Andrés Vásquez Lesmes , Lina María Acero Ruge , Erwin Hernando Hernández Rincón , Lina Paola Avella Pérez

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引用次数: 0

Abstract

Introduction

Orphans/Rare diseases (ORD) in Colombia have a prevalence of 1 per 5000 persons. Globally, public policies have shown inefficacy. International efforts to raise awareness for these patients have progressed, but challenges persist in integrating them into local and territorial health plans in Colombia. Overcoming barriers in healthcare delivery and assessing the need for structural reforms are crucial.

Objective

To synthesize available evidence on the integration of ORD into local/territorial health plans in Colombia, providing a comprehensive view of the Colombian healthcare system in the global context.

Methods

An exploratory systematic review, known as a “Scoping Review,” was conducted in PubMed, Embase, Scopus, and grey literature from 2009 to 2024; 49 documents were selected for analysis.

Results

Of the evidence found, 20.5% (n = 10) were primary studies, highlighting global public policies, and 79.5% (n = 39) comprised grey literature; (n = 8) discussed access barriers, health models, (n = 31) addressed public policies with Colombian intervention pillars, and only (n = 6) included local and territorial health plans in Colombia.

Conclusions

The information gathered shows that ORD pose significant challenges to healthcare systems due to their low prevalence and the lack of specific research and treatment. Despite regulatory efforts in Colombia, a comprehensive and coordinated approach is needed to effectively address these conditions.

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将孤儿/罕见病纳入哥伦比亚地方/地区卫生计划：系统探索性审查

哥伦比亚的孤儿/罕见病患病率为每5000人中有1人。在全球范围内，公共政策已显示出无效。提高对这些患者认识的国际努力取得了进展，但在将其纳入哥伦比亚地方和领土卫生计划方面仍然存在挑战。克服医疗保健提供方面的障碍和评估结构性改革的必要性至关重要。目的：综合现有证据，将ORD纳入哥伦比亚地方/地区卫生计划，提供全球背景下哥伦比亚卫生保健系统的综合视图。方法对2009 - 2024年PubMed、Embase、Scopus和灰色文献进行探索性系统评价，称为“Scoping review”；选取49篇文献进行分析。在发现的证据中，20.5% （n = 10）是主要研究，强调全球公共政策，79.5% （n = 39）是灰色文献；（n = 8）讨论了获取障碍、健康模式，（n = 31）讨论了哥伦比亚干预支柱的公共政策，只有（n = 6）包括哥伦比亚的地方和领土健康计划。结论收集到的信息表明，由于低患病率和缺乏专门的研究和治疗，ORD对卫生保健系统构成了重大挑战。尽管哥伦比亚在监管方面做出了努力，但需要采取全面和协调的办法来有效地解决这些问题。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Revista Colombiana de Reumatologia Medicine-Rheumatology

CiteScore

0.80

自引率

0.00%

发文量

期刊介绍： The Colombian Journal of Rheumatology (Revista Colombiana de Reumatología) is the official organ of the Colombian Association of Rheumatology (Asociación Colombiana de Reumatología) and the Central American, Caribbean and Andean Association of Rheumatology (Asociación Centroamericana Caribe Andina de Reumatología) - ACCA. It was created in December 1993 with the purpose of disseminating scientific information derived from primary and secondary research and presenting cases coming from the practice of Rheumatology in Latin America. Since its foundation, the Journal has been characterized by its plurality with subjects of all rheumatic and osteomuscular pathologies, in the form of original articles, historical articles, economic evaluations, and articles of reflection and education in Medicine. It covers an extensive area of topics ranging from the broad spectrum of the clinical aspects of rheumatology and related areas in autoimmunity (both in pediatric and adult pathologies), to aspects of basic sciences. It is an academic tool for the different members of the academic and scientific community at their different levels of training, from undergraduate to post-doctoral degrees, managing to integrate all actors inter and trans disciplinarily. It is intended for rheumatologists, general internists, specialists in related areas, and general practitioners in the country and abroad. It has become an important space in the work of all rheumatologists from Central and South America.