In recent years, rare diseases have received increasing attention from the country and society. Although some rare diseases are gradually becoming known to the public, the vast majority of them are unknown among over 7000 known rare diseases, including paroxysmal nocturnal hemoglobinuria (PNH). Recently, Professor Tong Hongyan, Deputy Director of the Hematology Department of the First Affiliated Hospital of Zhejiang University School of Medicine, conducted a science popularization on paroxysmal nocturnal hemoglobinuria.
The complement system is a double-edged sword: an important component of the human immune system, but excessive activation can lead to diseases and maintain tissue homeostasis. Under normal circumstances, complement activation enables the body to respond to inflammatory, infectious, ischemic, necrotic damage, as well as foreign and self antigens.
The complement system is also a “double-edged sword”: complement activation can protect the body from damage caused by external stimuli; However, complement defects, dysfunction, or excessive activation can also lead to various inflammatory or autoimmune diseases, such as rare disease paroxysmal nocturnal hemoglobinuria.
Paroxysmal nocturnal hemoglobinuria is a rare chronic, progressive, and life-threatening disease of the blood system, with a global prevalence rate of approximately 16-20/100000. It can occur at any age stage and is more common in young adults, accounting for approximately 77% of patients aged 20-40. Complement mediated intravascular hemolysis is the main factor leading to paroxysmal nocturnal hemoglobinuria and its complications, such as chronic kidney disease, pulmonary hypertension, anemia, etc. The most destructive consequences are the formation of blood clots, terminal organ damage, and death. Patients in this age group are often the backbone of their families, and the impact of diseases on their health and the burden of treatment bring great pressure to their families.
Although paroxysmal nocturnal hemoglobinuria has been included in the first batch of rare diseases in China, its awareness rate is extremely low. The early detection and diagnosis of paroxysmal nocturnal hemoglobinuria is crucial for safeguarding the patient’s life and health. Therefore, improving doctors’ and public awareness of this disease is a crucial step.
Complement inhibitors provide a new option for the treatment of paroxysmal nocturnal hemoglobinuria
Tong Hongyan introduced that without effective treatment, the quality of life of PNH patients is poor, with a 10-year overall survival rate of about 70% and a 5-year mortality rate of 35%. The traditional treatment for paroxysmal nocturnal hemoglobinuria includes symptomatic treatment, glucocorticoids, immunosuppression, bone marrow transplantation, etc.
The approval of complement inhibitors globally and in China provides a new option for the treatment of paroxysmal nocturnal hemoglobinuria. Tong Hongyan stated that with the progress of science and the further improvement of understanding of complement mechanisms, complement also.From initially being one of the indicators reflecting disease activity levels, it has gradually become a clinical diagnosis and treatment target for many diseases, and has become an important theoretical basis for developing new targeted drugs.
Promote the construction of a multi-level medical payment guarantee system for rare diseases, and improve the accessibility of drugs
The treatment drugs for PNH have emerged, but how to make them affordable for patients requires cooperation from multiple parties to overcome the challenges. Professor Tong Hongyan said that the research and development of rare disease drugs is difficult and costly, and relying solely on one party is difficult to meet the diagnostic, medication, and payment needs of Chinese rare disease patients. Therefore, promoting the construction of a multi-level medical payment security system for rare diseases, improving the accessibility and survival status of patients with special drugs, is not only a medical topic, but also an important social matter that requires collaboration and innovation among society, enterprises, and healthcare systems to improve the accessibility and affordability of diagnosis and treatment for rare disease patients.