阵发性睡眠性血红蛋白尿症高发于青壮年，专家提醒需长期规范管理

Core Insights - PNH (Paroxysmal Nocturnal Hemoglobinuria) is a rare and severe blood disorder primarily affecting young adults aged 20 to 40, with a global incidence of approximately 1-2 per million and an estimated incidence of 1 in 100,000 in China [1][2] - The disease poses significant challenges, especially for pregnant patients, who face increased risks of hemolysis and thrombosis, potentially leading to severe complications for both mother and fetus [2][4] Group 1: Disease Overview - PNH is characterized by abnormal hematopoietic stem cells that lack a protective layer, leading to self-attack by the complement system and destruction of red blood cells [2] - The main clinical manifestations include intravascular hemolysis, bone marrow failure, and thrombosis, with thrombosis being the leading cause of death among PNH patients [2] Group 2: Patient Challenges - Approximately 77% of PNH patients are diagnosed between the ages of 20 and 40, impacting their roles as family providers and workforce contributors [1] - The disease can lead to repeated anemia, blood transfusions, and thrombotic risks, significantly altering patients' life trajectories [1] Group 3: Treatment and Management - Traditional treatments were largely supportive, with a five-year mortality rate of 35%, highlighting the need for improved survival rates and quality of life [2] - Recent advancements in targeted therapies have enabled better management of PNH, allowing patients to return to normal life [2][3] - Long-term standardized management is crucial for PNH patients, particularly during pregnancy, which requires careful monitoring and treatment adjustments throughout the pre-pregnancy, pregnancy, and postpartum periods [4][5]