Pneumology Department, Hospital Universitari Vall d'Hebron, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, CIBER de Enfermedades Respiratorias (CIBERES), Barcelona, Spain.
Pneumology Department, Hospital Beatriz Ângelo, Loures, Portugal.
Ther Adv Respir Dis. 2024 Jan-Dec;18:17534666241271917. doi: 10.1177/17534666241271917.
Severe alpha-1 antitrypsin deficiency (AATD) is associated with an increased risk of emphysema. However, the clinical manifestations are very heterogeneous, and an individual prognosis is very difficult to establish. Intravenous augmentation therapy with alpha-1 antitrypsin (AAT) from pooled blood donors is the only specific treatment available, but it requires weekly or biweekly administration for life. Several guidelines provide the indication criteria for the initiation of AAT augmentation therapy. However, in clinical practice, there are situations in which the decision as to when to start treatment becomes uncertain and some studies have shown great variability in the indication of this treatment even among specialists. The usual dilemma is between initiating augmentation therapy in individuals who may not develop significant lung disease or in whom disease will not progress or delaying it in patients who may otherwise rapidly and irreversibly progress. We illustrate this dilemma with five clinical cases: from the case of a patient with normal lung function who requests initiation of therapy to a moderately stable patient without augmentation or a mild patient who, after several years of remaining stable without treatment, deterioration in lung function initiated and, consequently, augmentation therapy was begun. All the nuances associated with the indication of augmentation justify a personalised approach and the decision about initiating augmentation therapy must be made after careful consideration of the pros and cons with the patient in reference centres with experience in treatment. These reference centres can work in collaboration with local hospitals where patients can be closely followed and augmentation therapy can be administered to avoid unnecessary travelling, making periodical administrations more comfortable for the patient.
严重的α-1 抗胰蛋白酶缺乏症（AATD）与肺气肿的风险增加有关。然而，临床表现非常异质，个体预后非常难以确定。从混合血源中提取的α-1 抗胰蛋白酶（AAT）静脉输注是唯一可用的特效治疗方法，但需要终身每周或每两周进行一次治疗。有几个指南提供了启动 AAT 增强治疗的适应证标准。然而，在临床实践中，存在一些情况，即何时开始治疗的决策变得不确定，并且一些研究表明，即使在专家中，这种治疗的适应证也存在很大的差异。通常的困境是在可能不会发展出显著肺部疾病或疾病不会进展的个体中启动增强治疗，或者在可能会迅速且不可逆转地进展的患者中延迟治疗。我们通过五个临床病例来说明这种困境：从一个要求开始治疗的肺功能正常的患者，到一个没有增强治疗的病情稳定的患者，或者一个轻度患者，他在没有治疗的情况下稳定了几年后，肺功能恶化，随后开始了增强治疗。与增强治疗的适应证相关的所有细微差别都证明需要个性化的方法，并且必须在参考中心与患者一起仔细考虑利弊后，才能决定开始增强治疗，这些参考中心可以与具有治疗经验的当地医院合作，以便对患者进行密切随访并进行增强治疗，从而避免不必要的旅行，使患者的定期治疗更加舒适。
