Alpha-1 antitrypsin deficiency (AATD) is a genetic condition which can cause lung, liver, and skin disease. There are an estimated 3,000 people with severe Alpha- 1 (ZZ) and 250,000 with moderate Alpha-1 (MZ) on the island of Ireland. Alpha-1 most often leads to chronic obstructive pulmonary disease (COPD) and people with Alpha-1 should avoid smoking at all costs.
In 2016 Beaumont Hospital was designated by the HSE and the Department of Health as the National Centre for Excellence in AATD and houses the HSE funded National Targeted Detection (NTD) programme, the only National programme of its type in the world. Under this programme, the Beaumont Centre tests for AATD, people with COPD, poorly responsive asthma, liver disease of unknown aetiology, panniculitis, vasculitis, bronchiectasis and people who are first degree relatives of those with AATD. To date over 25,000 people have been tested. Over one third have been found to have AATD. 450 have the most severe ZZ form, 500 have the SZ form and 4,500 have the MZ form in addition to over 100 with very rare forms of AATD.
Beaumont hospital National Centre for AATD is recognised worldwide as one of the major centres for the diagnosis, treatment and research in AATD. Everyone who has a positive result on testing is offered the opportunity to attend the Beaumont Hospital specialist AATD clinic where they will receive expert assessment, including lifestyle advice, genetic counselling, determination of the severity of their condition and its trajectory and access to new therapies being considered for AATD. Since its inception in 2004 the AATD service in Beaumont Hospital has published the major papers on the lung risk for MZ and SZ individuals and pioneered intravenous plasma purified AAT as a treatment option for people with the ZZ form of AATD. It has also published new strategies for testing people for AATD and is the home of the Irish National AATD Registry.
Patients with AATD can be referred by GP’s or Consultants from all over Ireland (including Northern Ireland) to the AATD centre in Beaumont as this is the only centre in Ireland with the expertise to evaluate and monitor patients with AATD.
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Ms. Linda Phoenix, Alpha-1 Antitrypin clinic secretary
Telephone: 01 852 8626Email: alpha1admin@beaumont.ie
The Alpha-1 antitrypsin clinic is held in Beaumont hospital on Wednesday afternoons every week.
Alpha-1 Foundation Ireland provides free testing for Alpha-1 as part of a national detection programme which is funded by the HSE.
For more details ring 01 809 3871 or email alpha1@rcsi.ie
Alpha-1 Foundation Ireland