Pneumology Department, Hospital Universitari Vall d'Hebron; Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, Spain.
COPD. 2020 Aug;17(4):346-354. doi: 10.1080/15412555.2020.1795824.
Alpha-1 antitrypsin deficiency (AATD) is a rare and underdiagnosed disease that is associated with the development of liver disease in adults and children and pulmonary emphysema in adults. Several studies have shown that there is limited knowledge about the disease and its diagnosis among health care providers, and there is an important inequity in the access to specialized care and appropriate treatment across Europe. The European Commision and the European Respiratory Society (ERS) recommend that the care of patients with AATD must be organized in reference centers at national or regional levels. These reference centers must provide optimal clinical care in terms of adequate diagnostic techniques, such as phenotyping and genotyping, and ensure access to treatment according to guidelines. Reference centers should also provide continuous medical education for health care professionals, genetic counseling, collaboration with patient associations and promote collaborative research and clinical trials with new and existing treatments for the disease. These centers must have a registry of their activity and collaborate with large, international, multicenter registries, such as the European Alpha-1 antitrypsin Deficiency Research Collaboration (EARCO) international registry, which is endorsed by the ERS, and aims to recruit up to 3,000 patients over a period of three years and prospectively follow them to better understand the natural history of the disease and the impact of different treatments on outcomes in a real life setting. International collaboration and standardized collection of high-quality prospective data will provide new insights into the clinical manifestations and prognosis of AATD.
α-1 抗胰蛋白酶缺乏症（AATD）是一种罕见且诊断不足的疾病，可导致成人和儿童发生肝脏疾病，以及成人发生肺气肿。多项研究表明，医护人员对该病及其诊断的了解有限，而且在获得专门医疗和适当治疗方面，欧洲各地存在着严重的不平等。欧盟委员会和欧洲呼吸学会（ERS）建议，AATD 患者的治疗必须在国家或地区层面的参考中心组织。这些参考中心必须提供最佳的临床护理，包括充分的诊断技术，如表型和基因型分析，并确保根据指南获得治疗。参考中心还应为医护人员提供持续的医学教育、遗传咨询、与患者协会合作，并推动针对该疾病的新治疗方法和现有治疗方法的合作研究和临床试验。这些中心必须有其活动登记册，并与大型国际多中心登记册合作，如由 ERS 认可的欧洲 α-1 抗胰蛋白酶缺乏症研究合作组织（EARCO）国际登记册，该登记册旨在在三年内招募多达 3000 名患者，并对他们进行前瞻性随访，以更好地了解疾病的自然史以及不同治疗方法对真实环境中结局的影响。国际合作和高质量前瞻性数据的标准化收集将为 AATD 的临床表现和预后提供新的见解。
