How much do you know about “rare diseases”?

This is the 4680th article of Da Yi Xiao Hu

"Marionette man" (multiple sclerosis), "blue lips" (pulmonary hypertension), "baby panda" (Gaucher disease)... Behind these seemingly cute and beautiful names, there are actually many unspeakable pains of patients with rare diseases.

What is a “rare disease”?

Rare diseases refer to diseases with extremely low incidence rates. Rare diseases are also called "orphan diseases" and have not been clearly defined in China in the past. According to the definition of the World Health Organization (WHO), rare diseases refer to diseases that account for between 0.65‰ and 1‰ of the total population. In recent years, relevant departments of the Chinese government have strongly supported the prevention, diagnosis and treatment of rare diseases. The definition of rare diseases in China is given in the "2021 China Rare Disease Definition Research Report", that is, diseases with a neonatal incidence rate of less than 0.1‰, a prevalence rate of less than 0.1‰, and a number of patients of less than 140,000. As long as a disease meets one of these criteria, it is considered a rare disease.

Pain points in diagnosis and treatment of rare diseases in my country

At present, the number of rare diseases in China is at least about 20 million, or even more. At the current stage, there are two major problems in the diagnosis and treatment of rare diseases. First, the misdiagnosis and missed diagnosis rates are very high, and about 60% of patients with rare diseases have experienced misdiagnosis. Here, "Prader-Willi syndrome" is taken as an example. Its external symptoms are overeating, obesity, and developmental delay, which are very easy to be misdiagnosed as cerebral palsy, myasthenia gravis and other diseases. In addition, the inaccessibility and unaffordability of rare disease drugs is another major problem. China has released the first batch of rare disease catalogs. However, among the 121 diseases in this catalog, about 3 million rare disease patients still face a series of difficulties such as being unable to obtain drug treatment after diagnosis, or the treatment drugs are not yet available in China, and the treatment drugs that have been available but not included in medical insurance are expensive.

The "Spring" of Diagnosis and Treatment of Rare Diseases in my country

To address the above problems, China has introduced corresponding countermeasures. For example, in response to misdiagnosis and missed diagnosis, my country has established a national rare disease diagnosis and treatment cooperation network, selected 324 hospitals with strong rare disease diagnosis and treatment capabilities and rich cases, and provided patients with relatively concentrated diagnosis and treatment and two-way referral. The establishment of this platform is of great significance. It can not only serve as a diagnosis and treatment platform, but also a platform for case collection and analysis through continuous improvement of remote diagnosis and treatment technology, and on this basis, communication, discussion and medical education can be carried out. For another example, in order to improve the accessibility of rare disease drugs, the State Drug Administration and the National Health Commission have established a special approval channel for new rare disease drugs urgently needed in clinical practice. The special channel will review and approve drugs within 3 months. In addition, by 2022, 250 drugs will be included in the national medical insurance drug list, with an average price reduction of more than 50%. In 2019, China's first batch of rare disease diagnosis and treatment guidelines were also issued.

What should ordinary people do when faced with rare diseases?

Most rare diseases are hereditary. For the prevention and treatment of rare diseases, the most important thing is early detection and diagnosis, and prevention is more important than treatment. As prospective parents and parents, it is necessary for them to learn more about the basic knowledge and diagnosis and treatment information of rare diseases. This will not only allow them to take preventive measures in advance, but also strengthen the "three-level" screening and testing before pregnancy, during pregnancy and after the birth of newborns, so as to detect related symptoms as early as possible and seek medical treatment quickly. This is the key link to ensure "early detection" and the "cornerstone" of rare disease prevention and treatment.

Attached is a series of illustrations on "Understanding Rare Diseases with One Picture"

A picture to understand "Fabry disease"

A picture to understand "hereditary angioedema"

A picture to understand "Gaucher disease"

A picture to understand "hemophilia"

This project is funded by Shanghai Science Education Development Foundation (Project No.: B202117)

Author: Shanghai Jing'an District Central Hospital

Dr. Xia Lemin