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Beaumont Hospital was designated the National Centre of Expertise for Alpha-1 Antitrypsin Deficiency (AATD) in 2016 by the Department of Health and the HSE. This was in recognition of the excellent clinical services at Beaumont Hospital, the research unit in the RCSI Department of Medicine at Beaumont, and the patient support services provided by Alpha-1 Foundation Ireland.
Alpha-1 Foundation Ireland hosts a website (www.alpha1.ie) providing information and advice for doctors, patients, and the general public.
AATD remains under-diagnosed with prolonged delays in diagnosis common. In addition, a large number of AATD individuals are first diagnosed with COPD. It is important to stress that AATD is not a rare disease but a disease that is rarely diagnosed. The advantages of an early and accurate diagnosis of AATD are many and include:
The importance of an early diagnosis of AATD cannot be over-emphasised as the resulting medical follow-up and lifestyle changes can prevent or at least postpone the development of AATD-related lung and liver disease.
Increased awareness and understanding of AATD is vital to prevent the continuing under-diagnosis of this condition. To achieve this, Alpha-1 Foundation Ireland hosts a website (www.alpha1.ie) providing information and advice for doctors, patients, and the general public. To further raise awareness of AATD, Alpha-1 Foundation Ireland partners with other charities (e.g. COPD Support Ireland, Irish Thoracic Society, Health Research Charities Ireland) and universities (e.g. RCSI, UCD, and TCD) to deliver educational seminars and presentations on AATD. Alpha-1 Foundation Ireland also provides a range of additional services including counselling, expert advice, information packs and leaflets, as well as hosting an annual patient conference.
If you have been diagnosed with AATD and would like to be seen by a specialist, ask your doctor to write a referral to the National Centre of Expertise for AATD, under the care of Professor Gerry McElvaney, Consultant Respiratory Physician, Beaumont Hospital, Dublin 9. GPs can also refer via HealthLink. For more information on AATD services in Beaumont Hospital for patients including contact and clinic information please see HERE
Alpha-1 antitrypsin (AAT) is a vital protein produced by the liver to protect the lungs. It provides protection from the harmful effects of infections and inhaled irritants, particularly tobacco smoke.
Alpha-1 antitrypsin deficiency (AATD) is a genetic condition which can cause lung, liver, and skin disease. The condition severely affects more than 3,000 people (those with 2 defective AAT genes) on the island of Ireland. A further 250,000 people with a single defective AAT gene are also at risk of lung disease if they smoke. Research shows that 1 in 25 people in Ireland carry a defective AAT gene. AAT deficiency most often leads to a lung disease called chronic obstructive pulmonary disease (COPD) and people with AATD should avoid smoking at all costs.
To learn more about AATD, watch this excellent educational film produced by Alpha-1 Foundation Ireland with funding from the Health Research Board.
Figure 1. The role of alpha-1 antitrypsin in health and how deficiency can cause health issues.
In May 2004, the national targeted detection programme for AATD was launched by Alpha-1 Foundation Ireland with funding from the HSE. Based in the RCSI Education and Research Centre at Beaumont Hospital, the programme provides free testing to patients with chronic obstructive pulmonary disease (COPD), non-responsive asthma, liver disease of unknown cause and to relatives of people with AATD. Over 30 hospitals around Ireland participate in the detection programme. Over 26,000 people have been tested so far, with over 7,500 people diagnosed with either moderate or severe AATD. Many attend the National Centre of Expertise for AATD at Beaumont Hospital, under the clinical leadership of Consultant Respiratory Physicians Professor Gerry McElvaney, Professor Cedric Gunaratnam, and Dr. Michelle Casey.
Figure 2. Specific groups recommended for testing for AATD by American Thoracic Society and European Respiratory Society guidelines.
The National Alpha-1 Antitrypsin Deficiency Registry is a confidential database collecting and storing information on individuals diagnosed with AATD. The aim of the registry is to improve our scientific knowledge of AATD and ultimately lead to better treatments in the future. It also allows rapid identification of individuals who would benefit from future treatments or be candidates for clinical trials. Anyone diagnosed with AATD is eligible to enrol in the registry.
The National AATD Registry was re-developed and re-launched on 31st July 2017 and to date, there are over 700 individuals enrolled on the registry. The re-developed registry has many new features including a family tree tool to highlight the impact of the condition within a family and to help identify further family members who may be affected. You might be interested in learning more about the National AATD Registry here.
Figure 3. Example of a family tree tool used on the National AATD Registry (MM – unaffected, MZ – moderate AATD, ZZ – severe AATD).
There are 2 tests required to correctly diagnose AATD. The first test is an alpha-1 antitrypsin (AAT) level, the second test is called an AAT phenotype. An AAT level measures how much AAT protein is in the blood – and the AAT phenotype looks at the type of AAT protein in the blood. If the result of the AAT level is lower than normal, then the AAT phenotype test should be carried out to investigate AATD.
If you do have a proven family history of AATD, talk to your family doctor and ask for both AAT level and AAT phenotype. For further details on how to get tested for AATD contact Alpha-1 Foundation Ireland by calling +353-1 8093871, by emailing alpha1@rcsi.ie or by visiting https://www.alpha1.ie/.
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