The Liver and Alpha-1 Antitrypsin Deficiency – Alpha-1 Foundation
- Newborns, children, and adults with unexplained liver disease
- People with a family history of liver disease
- Relatives of a person diagnosed with Alpha-1
- Everyone with emphysemaObstructive airway disease in which the walls of the alveoli (air sacs) are damaged or destroyed. More, bronchiectasis, chronicA condition or illness that arises slowly over days or weeks and may or may not resolve with treatment. It is the opposite of acute. More obstructive pulmonaryMedical term referring to the lungs. More disease (COPD), chronicA condition or illness that arises slowly over days or weeks and may or may not resolve with treatment. It is the opposite of acute. More bronchitis, or asthma that is incompletely reversible after aggressive treatment
Until it is appropriate to begin screening the general population for Alpha-1, there are some guidelines as to who should be tested for this condition. These include individuals with:
Big Fat Reference Guide – AlphaNet
- All individuals with a diagnosis of emphysemaObstructive airway disease in which the walls of the alveoli (air sacs) are damaged or destroyed. More, chronicA condition or illness that arises slowly over days or weeks and may or may not resolve with treatment. It is the opposite of acute. More bronchitis, unexplained bronchiectasis, or chronicA condition or illness that arises slowly over days or weeks and may or may not resolve with treatment. It is the opposite of acute. More obstructive pulmonaryMedical term referring to the lungs. More disease (COPD)
- Family history of Alpha-1
- Family history of emphysemaObstructive airway disease in which the walls of the alveoli (air sacs) are damaged or destroyed. More, bronchiectasis, liver disease, or panniculitis
- ChronicA condition or illness that arises slowly over days or weeks and may or may not resolve with treatment. It is the opposite of acute. More asthma in which lung function does not return to normal with therapy in adolescents and adults
- Recurrent pneumonia or bronchitis
- Unexplained liver disease
- Granulomatosis with polyangiitis (GPA or C-ANCA positive vasculitis)
- Necrotizing panniculitis
We conditionally recommend testing for A1AT deficiency in all individuals with COPD at the time of diagnosis, in individuals with adult-onset asthma with persistent airway obstruction, and in individuals with unexplained bronchiectasis.
Individuals (female and male) suspected of A1AT deficiency (asthma, asthma-COPD overlap syndrome, COPD, unexplained bronchiectasis). Individuals with a first degree relative documented to have A1AT deficiency.
Alpha-1-Antitrypsin Deficiency Targeted Testing and Augmentation Therapy: A Canadian Thoracic Society Meta-analysis and Clinical Practice Guideline – Canadian Journal of Respiratory, Critical Care, and Sleep Medicine
Contrary to the belief that patients with severe A1AT deficiency are easy to identify clinically, signs and symptoms are typically indistinguishable from those of other forms of COPD. In addition, up to a third of patients with severe A1AT deficiency have greater involvement of the upper regions of the lung. As a result of these confounding clinical manifestations, A1AT deficient patients could be very difficult to discern from other individuals with COPD and normal A1AT status, justifying a more systematic approach to patient identification and diagnosis. Additionally, patients with severe A1AT deficiency may present with other chronicA condition or illness that arises slowly over days or weeks and may or may not resolve with treatment. It is the opposite of acute. More airway diseases than COPD. Similar to the previous CTS guidelines, evidence does not support testing for A1AT deficiency in all patients with asthma or bronchiectasis; however, the panel conditionally recommends testing in adult patients diagnosed with “asthma” with persistent airflow obstruction or unexplained bronchiectasis, in order to identify patients with A1AT deficiency presenting with atypical clinical phenotypes.
Late diagnosis of A1AT deficiency has been associated with reduced functional status and quality of life. As in other forms of COPD, suboptimal management leads to accelerated health status decline. In one study where patients were diagnosed on average 5.3 years after first clinical manifestations with a mean FEV1 of 52% predicted value, delayed diagnosis was associated with worse overall survival and transplant-free survival. The delay in diagnosis was not related to specific clinical characteristics of the patients, implying that the clinical picture alone is not adequately sensitive to alert clinicians to the presence of the disease. As such, most medical societies recommend targeted testing of individuals being investigated for a lung disease possibly associated with A1AT deficiency, and in relatives of people who have been identified with this genetic abnormality.
Alpha-1-Antitrypsin Deficiency Targeted Testing and Augmentation Therapy: A Canadian Thoracic Society Meta-analysis and Clinical Practice Guideline – Canadian Journal of Respiratory, Critical Care, and Sleep Medicine