Alpha-1 is a genetic condition that can cause severe lung, liver, and rarely skin problems.  It is caused by a deficiency of the alpha-1 antitrypsin (AAT) protein which is supposed to protect the lung against cigarette smoke and bacterial infection.

Figure 1: The role of the alpha-1 antitrypsin (AAT) protein and what happens when someone is AAT deficiency.

It is one of the most common inherited conditions in Ireland but remains hugely under-diagnosed.  For example, the typical person with Alpha-1 sees up to 5 doctors for a period of 7 years before a correct diagnosis is reached.  Alpha-1 affects approximately 250,000 people on the island of Ireland, with 3,000 of these affected by severe deficiency (Carroll et al. 2011 insert URL here https://respiratory-research.biomedcentral.com/articles/10.1186/1465-9921-12-91).  Most people with Alpha-1 present in their 40s and 50s with early-onset emphysema or chronic obstructive pulmonary disease (COPD) but this can occur later in life.  A sub-group of people with severe Alpha-1 (usually ZZ) present with liver disease in the first year of life and in rare cases may require liver transplantation.  Early diagnosis is vital to the health and welfare of people with Alpha-1, and this is our main objective.  We achieve this by conducting a national targeted detection programme for Alpha-1, which is funded by the HSE.

Figure 2: Groups that should be considered for testing for Alpha-1.

Alpha-1 Foundation Ireland works closely with the Irish Donor Network, the Irish Asthma Society, Health Research Charities Ireland (HRCI), the Irish Platform for Patient Organisations Science and Industry (IPPOSI), the Irish Lung Health Alliance, COPD Support Ireland and other organisations dedicated to improving lung health.  We support our active Alpha-1 patient support group which promotes understanding and awareness of the condition among patients and their families, as well as providing much needed peer-to-peer support for newly-diagnosed Alphas.

An important route to diagnosis is by family screening.  If someone is found to be affected by Alpha-1, their brothers or sisters can be affected too.  This can lead to early intervention in siblings who would have remained unidentified.  The knowledge that Alpha-1 is in the family can be lifesaving, particularly for smokers.

Figure 3: A typical family affected by Alpha-1.  ZZ means the severe form of the condition with high risk of lung and liver disease.  MZ means moderate deficiency with increased risk of lung disease in smokers, and MM means unaffected by Alpha-1.

Benefits of Diagnosing Alpha-1

• Risk reduction through lifestyle changes
• Increased smoking cessation (Franciosi et al, 2021) 
• Family screening
• Close medical surveillance of lung and liver
• Opportunities to take part in clinical trials testing new treatments

For more information on Alpha-1 visit our website https://www.alpha1.ie/ or call 01-8093871.  We are also on Facebook and Twitter .  

Watch a short educational video about Alpha-1: 

HOW DO I GET TESTED?
Alpha-1 Foundation Ireland provides free testing for alpha-1 antitrypsin deficiency as part of a national detection programme which is funded by the HSE.  All HSE hospitals are eligible to take part in this programme.  The test is a simple blood test and if you have a patient you suspect has the condition, you simply write “Alpha-1 antitrypsin level” and “Alpha-1 antitrypsin phenotype” on your usual blood test request form.  Your local hospital laboratory will look after the rest.  For more information on testing ring 01-8093871 or email alpha1@rcsi.ie.