CCTV News (reporter Zhang Kechen): In a workplace observation reality show broadcast on the Internet recently, the rare disease of cardiac amyloidosis has entered the public eye, as an institution that provides offers this season, the Second Affiliated Hospital of Zhejiang University School of Medicine (referred to as the Second Hospital of Zhejiang University) has demonstrated strong technical strength and medical humanistic feelings in the field of rare heart disease diagnosis and treatment. "Rare diseases are not uncommon at times, and exploring and optimizing the diagnosis and treatment model of rare diseases is a responsibility of 'innovative' hospitals." When asked about the hospital's original intention to support the innovation and development of the diagnosis and treatment model of rare diseases, Professor Wang Jian'an, a special expert in Zhejiang Province, the secretary of the Party Committee of the Second Hospital of Zhejiang University, and the director of the Heart Center, said in a serious tone that unlike common diseases, medical workers diagnosing rare diseases need more exploratory, need more mastery of disease changes, and need more patience to excavate patients This means that the greater the potential for scientific creation, the hospital has always taken innovation as the main theme of work, which will greatly promote the creation of an innovative atmosphere.
Innovative diagnosis and treatment model for rare diseases
Promote accurate and standardized diagnosis and treatment of rare diseases
In February 2019, the National Health Commission selected 324 hospitals to form the first batch of rare disease diagnosis and treatment collaboration network. Among them, there are 1 national-level leading hospital, 32 provincial-level leading hospitals and 291 cooperative network member hospitals. The Second Hospital of Zhejiang University was selected as the leading hospital of Zhejiang Rare Disease Collaboration Network. As early as 2015, the hospital launched the construction of a rare disease diagnosis and treatment center, formed a team of rare disease diagnosis and treatment experts, and successively established MDT diagnosis and treatment teams such as Wilson's disease, frostbite, Huntington's disease, cardiac amyloidosis, Pompeii disease, Fabre disease, etc., creating an "outpatient-ward-research center" diagnosis and treatment model. On November 1, 2021, the Medical Genetics Department/Rare Disease Diagnosis and Treatment Center of the Second Hospital of Zhejiang University was officially launched, which means that rare diseases have moved from a ward to a professional independent department in the hospital.
Professor Wang Jianan said that in the face of rare diseases, in most cases, multidisciplinary and multi-platform alliances are needed, such as the organic cooperation of genetic diagnostic technology centers and clinical sub-specialties, or the cooperation of cross-specialties, which is often an important symbol of hospital diagnosis and treatment capabilities, teamwork capabilities and management levels. At present, Zhejiang Province has set up ten rare disease single disease diagnosis and treatment cooperation groups, and there are more than ten single disease MDT teams in the Second Hospital of Zhejiang University.
Because most of the clinical symptoms of rare diseases are not a single manifestation, Professor Wu Zhiying, chief physician of the Department of Neurology of the Second Hospital of Zhejiang University and chairman of the Zhejiang Provincial Collaborative Group of the China Rare Disease Alliance, for example, said that a patient with Wilson's disease is often the main manifestation of nervous system symptoms, when he comes to the neurology department, involving abnormal liver function, it is necessary to ask experts in gastroenterology, hepatobiliary and pancreatic surgery to consult together. For a disease or a certain patient, experts from various disciplines in the clinic join hands to try to move the patient's diagnosis and treatment time forward, and the follow-up will have a relatively good prognosis. This model has been promoted not only in the Second Hospital of Zhejiang University, but also in various collaborative network hospitals in Zhejiang Province.
According to reports, as the leading hospital of the provincial rare disease collaboration network, the second hospital of Zhejiang University regularly organizes 26 member hospitals of the rare disease collaboration network in Zhejiang Province to hold work meetings, regularly organizes doctor training, and each hospital has rare disease management personnel and experts, from collaborative management to physician training, continuously and deeply promotes the construction of the rare disease collaboration network system in Zhejiang Province, expands the radiation surface of the rare disease collaboration network hospital in Zhejiang Province, builds a relatively centralized diagnosis and treatment and two-way referral system for rare disease patients, and gives full play to the leading role of high-quality medical resources.
As a front-line doctor, Professor Wu Zhiying hopes to improve the database of rare disease patients as soon as possible. She said that we continue to follow up the patient, the patient will be into the motor neuron patient follow-up library, once the library means that there will be a special person regular telephone follow-up, and even sometimes to the patient's home to follow up, follow-up, follow-up. And this case database will also be included in the national rare disease database, the national rare disease database is relatively large, they can be sorted out by the single disease database. "This will be very helpful for the future data analysis of motor neuron disease in China, including the patient's age of onset, the number of years of survival, the update of the condition during the follow-up process, and what treatments have been experienced, which will be of great help for drug research and development, and for patients with multidisciplinary diagnosis and treatment."
A rare disease that is "curable"
Improving complete diagnostic capacity and access to treatment is key
"Transthyroxine protein amyloid cardiomyopathy (ATTR-CM), a type of cardiac amyloidosis, has a diagnosis rate of less than 1%." Pan Xiaohong, chief physician of the Department of Cardiovascular Medicine of the Second Hospital of Zhejiang University, said that ATTR-CM is a rare, progressive, lethal idiopathic heart disease, and most patients are found to be in the middle and advanced stages of the disease. This is not an isolated case in the diagnosis of most rare diseases. According to the data, about 80% of rare diseases are genetic, and about half of rare diseases start in childhood, but the average time of recognition of rare disease patients is as long as 5 years.
Why is ATTR-CM so difficult to diagnose? Pan Xiaohong said that most of the disease is sporadic at the grass-roots level, often involving multiple systems, and the specificity of clinical symptoms is poor; for most doctors in China, including cardiovascular doctors and imaging doctors such as cardiac ultrasound, the awareness of ATTR-CM is very low; at the technical level, the vast majority of domestic hospitals lack complete diagnostic hardware facilities and software capabilities. A complete ATTR-CM diagnostic chain requires relatively high-demand adjunctive tests such as echocardiography, blood free light chain, hematuria immunosetting electrophoresis, PYP radionuclide imaging, and cardiac magnetic resonance imaging, and even some patients need to perform myocardial biopsy. Therefore, patients generally experience multiple misdiagnoses before diagnosis, and the diagnosis and treatment efficiency is low. To make matters worse, patients survive shorter on average without treatment after clinical diagnosis, with ATTR-CM lasting about 2-5 years and death usually caused by progressive heart failure.
According to reports, as early as 20 years ago, Western countries have paid attention to ATTR-CM. Through unremitting efforts, domestic cardiovascular doctors have rapidly shortened the gap with foreign diagnosis and treatment, and in 2021, the "Chinese Expert Consensus on the Diagnosis and Treatment of Transthyroxine Cardiac Amyloidosis" was published. It can be said that Chinese experts have spent a year walking the road of the United States for ten years, and industry experts have paid a lot of effort.
Chief Physician Pan Xiaohong appealed that the establishment of ATTR-CM diagnosis and treatment system and specialty alliance is crucial, after all, the clinical diagnosis and treatment of rare diseases is a multi-party linkage process, if the grass-roots hospital finds that suspected patients cannot be diagnosed, it is crucial to timely refer to the diagnosis and treatment center that can confirm ATTR-CM. At present, many provinces in the country already have the China Rare Disease Alliance ATTR-CM diagnosis demonstration unit, zhejiang university second hospital is the only one in Zhejiang Province, and the establishment of ATTR-CM MDT group, set up amyloidosis SOP diagnosis process, hope to establish more standardized diagnosis and treatment centers, standardize and improve the green channel and two-way referral mechanism for patient treatment.
"Accurate diagnosis is the key to precise treatment." In Professor Wu Zhiying's view, accurate diagnosis and two-way referral save medical resources, so that patients with clear diagnosis can get treatment in a timely and convenient manner, and really use the money on the blade. At present, patients can go to qualified hospitals such as the Second Affiliated Hospital of Zhejiang University School of Medicine for diagnosis, and issue a diagnosis certificate, and go to each collaborative network diagnosis and treatment hospital to obtain the corresponding rare disease drugs with the diagnosis certificate, and carry out corresponding medical insurance reimbursement in accordance with the policy.
In the program, medical student Liu Chang and Gao Shang followed up with two ATTR-CM genetic type patients in their 60s formed a strong contrast: one took the special drug clobenzazolic acid, some symptoms were alleviated, the disease did not progress significantly and even participated in the class reunion; the other failed to take the special drug in time due to economic and other reasons, and the condition was in a continuously worsening trend. Access to treatment is an insurmountable gap in front of the families of many rare disease patients.
Often due to the high cost of research and development, the price of rare disease drugs is expensive, which puts great pressure on the financial burden of patients. On December 3, 2021, the National Medical Insurance Bureau announced the results of the adjustment of the national medical insurance drug list in 2021, and 7 rare disease drugs such as chlorobenzolic acid were included in the national medical insurance directory. "The inclusion of rare disease-related drugs in medical insurance can greatly reduce the economic burden of medication for patients." Professor Pan Xiaohong told reporters that before the clobenzazolic acid was listed in China, some patients traveled in many ways to buy drugs overseas, and the cost was not cheap. "On the other hand, because of the effective treatment methods, clinicians can be urged to increase their enthusiasm and reduce the inertia of diagnosis and treatment." Pan Xiaohong said.
Face up to rare diseases without specific drugs
Keeping patients alive is the doctor's greatest wish
It is understood that there are more than 7,000 known rare diseases in the world, and less than 10% of diseases have approved treatment drugs or protocols. In the "First Catalogue of Rare Diseases" jointly issued by the National Health Commission and other 5 departments in 2018, 74 of the 121 rare diseases are "treatable".
Professor Wu Zhiying said that the future challenge of rare disease diagnosis and treatment is not in diagnosis, but in treatment. The gap between China and Europe and the United States in the level of rare disease diagnosis is narrowing, and even to some extent it may be better. The future dilemma will be in the treatment: first, the introduction of drugs, the current rare disease drugs are mostly by the European and American countries original research, China's original research drugs are very few, these original research drugs into the country, the need for multi-faceted joint efforts; the second is that China to rare pathogen research and development of drugs to work hard, some rare diseases in the world currently have no specific drugs, in the drug research and development to build their own team, will have greater help for future Chinese rare disease patients.
On various occasions, Professor Wu Zhiying will say such a sentence: For rare disease patients, living is the most important thing! Now although many rare diseases do not have specific drugs, but you can use a variety of symptomatic drugs, rehabilitation training, etc. to improve the quality of life of patients, at least for the patient at the moment is helpful, can let him survive, survive is the most important, live there is hope.
Professor Wang Jian'an said that doctors who are committed to overcoming rare diseases have a humanistic feeling, a sacred sense of mission and responsibility. Therefore, in such a situation, it is necessary for the government, hospitals, social institutions, enterprises, etc. to assume their respective roles to provide accessible and effective treatment for patients with rare diseases, which requires the joint efforts of the whole society. (Proofreading Lou Hao)
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