Emphysema linked to alpha-1-antitrypsin deficiency (DAAT): towards a better prediction of risks Emphysema caused by alpha-1-antitrypsin deficiency (DAAT) is a rare genetic disorder that can lead to serious complications, such as the need for a lung transplant or death, affecting up to 15% of patients. The only specific treatment available is a weekly infusion of alpha-1-antitrypsin (IV-AAT), an expensive and burdensome therapy.
Currently, there is no reliable model to predict the course of the disease in these patients. Our study, conducted in several French hospitals, aims to develop a prediction tool combining clinical, biological, functional data and advanced medical image analysis (lung CT). This model will make it possible to identify the most at-risk patients, in order to better adapt their care, anticipate transplant needs and avoid unnecessary treatments for low-risk patients.
Ultimately, this approach could also improve access to care for patients who need it most, while optimizing health system resources.
diagnosed between 2010 and 2025
in the pulmonology department
diagnosis of emphysema and COPD secondary to alpha-1 antitrypsin deficiency ZZ, Znull, ZMalton, Z and rare mutations,
emphysema according to the initial thoracic CT scan (+/- 12 months after diagnosis).
Age <18 years
Patient opposed to the use of their data for research purposes
Patient deprived of liberty by judicial decision
Patient not affiliated with a social security scheme
The subjects included will be any patients followed and diagnosed between 2010 and 2025 in the pulmonology department for emphysema and COPD secondary to alpha-1 antitrypsin deficiency ZZ, Znull, ZMalton, Z and rare mutations, based on the diagnosis of emphysema made from an initial thoracic CT scan (+/- 12 months after diagnosis).
Cohort
Retrospective
Not listed
Evaluation of vital status
Death within 5 years of emphysema diagnosis.
Evaluation of transplantation status
Lung transplantation within 5 years of emphysema diagnosis.
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