China News Service, May 24th (Reporter Chen Jing) Hereditary angioedema (HAE) is a rare autosomal dominant genetic disease with unpredictable onset, severe cases can lead to suffocation and death, but doctors and patients know the degree None are high.

　　The reporter learned on the 24th that a multidisciplinary expert seminar on hereditary angioedema (HAE) was successfully held in Shanghai.

The symposium was hosted by the Joint Conference of Chairmen of National Rare Disease Academic Groups, Shanghai Rare Disease Prevention and Treatment Foundation and Shanghai Medical Association Rare Disease Specialist Branch.

Dozens of experts, including members of the Rare Disease Diagnosis and Protection Expert Committee of the National Health Commission, jointly focused on the status quo of China's HAE diagnosis and treatment, discussed the way to break the Chinese HAE clinical diagnosis and treatment, and improved the accurate diagnosis and timely treatment of HAE in various regions, in order to benefit more rare diseases patient.

Li Dingguo said with emotion that patients with rare diseases are not afraid of waiting, but most afraid of waiting without hope.

Chen Jing

　　"The'double low' dilemma of low diagnosis rate and low treatment rate faced by HAE is the common pain point of many rare diseases diagnosis and treatment." Professor Li Dingguo, chairman of the Shanghai Rare Disease Prevention and Treatment Foundation, said bluntly in an interview with a reporter from Chinanews.com on the 24th.

He hopes that the seminar will not only allow more and more hospitals and medical workers to understand and understand HAE, but also provide reference and reference for the development path of diagnosis and treatment of other rare diseases in China, and comprehensively promote the rapid and high-quality development of rare disease diagnosis and treatment in China, and help more Patients with many rare diseases will return to normal life soon.

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　　Professor Li Dingguo said that the majority of patients with rare diseases are children, and the majority are inherited metabolic diseases.

Once a patient suffers from a rare disease, he will face multiple disasters: when the disease cannot be treated, it is a desperate disaster; there is no medicine in the country, and medicine abroad is a disaster to wait.

He said with emotion that patients with rare diseases are not afraid of waiting, but most afraid of waiting without hope.

　　This expert who has called on all sectors of society to pay attention to rare diseases for many years bluntly said that doctors who can see rare diseases are even rarer than rare disease patients; for doctors, the top priority is training, and at the same time strengthening and perfecting rare disease medical protection.

　　Promoting the development of rare disease diagnosis and treatment is not a matter of one department. It will involve many departments and requires the joint efforts and collective efforts of many parties.

He hopes that at the national or local government level, there will be a unified or coordinated regulatory agency that can coordinate various departments to pay attention to rare diseases.

"To promote the development of rare disease diagnosis and treatment, knowledge is needed, wisdom is needed, and emotion is needed even more. Feelings are needed." Li Dingguo also pointed out: "To promote the development of rare diseases, we must promote legislation."

　　It is reported that hereditary angioedema (HAE) is a rare autosomal dominant genetic disease. Acute edema occurs unpredictably in multiple parts of the patient's body, and the gastrointestinal mucosa attacks are accompanied by severe colic and nausea and vomiting.

According to reports, the onset of most HAE patients is unpredictable, and the attack progresses rapidly in the larynx, which can lead to death from suffocation.

　　As a rare disease, HAE has low awareness among the public and doctors, resulting in a very low rate of accurate diagnosis and timely treatment of patients.

The supporter of the seminar and Takeda Pharmaceutical stated that they will make every effort to improve the diagnosis and treatment of hereditary angioedema, strengthen public awareness of diseases, and promote policy breakthroughs.

Professor Cheng Lei, director of the Otorhinolaryngology Department of the First Affiliated Hospital of Nanjing Medical University (Jiangsu Provincial People’s Hospital), said in an interview on the 24th: “Many HAE patients have been transferred to multiple hospitals and different departments, and have experienced misdiagnosis and mistreatment for many years: some It is misdiagnosed as urticaria, some are misdiagnosed as gastroenteritis, pancreatitis, appendicitis, etc., and even unnecessary surgery is performed because of the misdiagnosis. At this stage, it is urgent to raise the awareness of HAE disease among medical staff to ensure that they can do their best Diagnose the disease as early as possible and control the initial disease within a controllable range; and ensure that patients can seek medical treatment in time when laryngeal edema occurs, so as to reduce the risk of acute attack and death." (End)