Lin Fangfang

Liaoning He University

Abstract：

Although rare diseases have extremely low incidence rates for individual conditions and a small number of affected individuals, the multitude of disease types results in a large overall patient population. These diseases are often characterized by heritability, chronic progression, and high disability and mortality rates, imposing a heavy burden on patients, the healthcare system, and society. Currently, the clinical diagnosis and treatment of rare diseases in China still face numerous challenges, including diagnostic delays, high rates of misdiagnosis and missed diagnosis, limited treatment options, uneven distribution of medical resources, and inadequate patient support. Establishing a scientifically sound and standardized management system for rare diseases has become a key pathway to addressing these challenges. Based on the practical needs of rare disease diagnosis, treatment, and management, this paper analyzes the necessity of standardized rare disease management. It constructs a standardized management strategy from five dimensions: diagnosis, treatment, resource integration, multidisciplinary collaboration, and patient support and security. Concurrently, it proposes implementation safeguards such as talent cultivation, research investment, and social publicity, providing theoretical references and practical guidance for improving the level of clinical diagnosis and treatment of rare diseases in China, protecting the rights and interests of rare disease patients, and perfecting the medical service system.

Key Words：

rare diseases; clinical diagnosis and treatment; standardized management; multidisciplinary collaboration; patient support