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Alpha-1 Antitrypsin Deficiency

What is Alpha-1 Antitrypsin Deficiency?

The National Alpha-1 Antitrypsin Deficiency Targeted Detection Programme

How Do I Get Tested For Alpha-1 Antitrypsin Deficiency?

National Centre for Expertise for Alpha-1 Antitrypsin Deficiency

National Alpha-1 Antitrypsin Deficiency Registry

Contact us

 

What is Alpha-1 Antitrypsin Deficiency?

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.  It can be easily measured by a simple blood test.

Alpha-1 antitrypsin deficiency (AATD) is a genetic condition which can cause lung, liver, and skin disease.  1 in 25 people in Ireland carry a defective Alpha-1 gene.  The condition severely affects more than 15,000 people (those with 2 defective genes), with another 250,000 (those with 1 defective gene) also at risk on the island of Ireland.  AATD 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

Fig 1 alpha 1

(Figure 1: Alpha-1 Antitrypsin in health and disease)


The National Alpha-1 Antitrypsin Deficiency Targeted Detection Programme

In May 2004, the national targeted detection programme for AATD was launched by the 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.  Testing is by a simple blood test which can be taken by a GP or family doctor.  Over 30 hospitals around Ireland participate in the detection programme.  Over 19,000 people have been tested so far, with approximately 4,000 people diagnosed with moderate or severe AATD. 

Who should be tested
Adults with symptomatic emphysema or COPD (regardless of age or smoking history
Adults with asthma with airflow obstruction that is incompletely reversible after aggressive treatment with bronchodilators
Asymptomatic individuals with persistent obstruction on pulmonary function tests with identifiable risk factors (cigarette smoking, occupational exposure)
Adults with necrotising panniculitis
Relatives of individuals with Alpha-1

Individuals with unexplained liver disease, including neonates, children, and adults, particularly the elderly

(Figure 2: Patient groups recommended for testing for AATD by the American Thoracic Society Guidelines)

The Alpha-1 Foundation also provides a range of additional services including counselling, expert advice, information packs and leaflets, an annual patient conference, and opportunities to enrol in clinical trials and to join the Alpha-1 patient support group. 

Unfortunately, AATD remains under-diagnosed with prolonged delays in diagnosis common.  In addition, a majority of AATD individuals are misdiagnosed 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:

  • Closer observation and management - especially lung and liver;
  • Family member testing - some of whom may have lung or liver complications;
  • Increased quit rates among smokers – a diagnosis of AATD has been shown to strongly motivate people to stop smoking;
  • Reduction of workplace hazards - exposures to occupational dusts, fumes, and vapours can be extremely harmful to people with AATD.

The importance of an early diagnosis of AATD cannot be over-emphasised as the resulting medical follow-up and lifestyle changes can completely prevent or at least postpone the development of AATD-related lung and liver disease.

Increased awareness and understanding of AATD is therefore vital to prevent the continuing under-diagnosis of this condition.  To achieve this, the Alpha-1 Foundation hosts a website (www.alpha1.ie) providing information and advice for doctors, patients, and the general public.  To further raise awareness of AATD, the Alpha-1 Foundation partners with other charities (e.g. COPD Support Ireland, Irish Thoracic Society, Medical Research Charities Group) and universities (RCSI and UCD for example) to deliver educational seminars and presentations on AATD. 

 

How Do I Get Tested For Alpha-1 Antitrypsin Deficiency?

There are 2 tests required to correctly diagnose alpha-1 antitrypsin deficiency. 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 – an AAT phenotype looks at the type of AAT in the blood.  If the result of the AAT level is lower than normal, then the AAT phenotype should be carried out to investigate. 

If you do have a proven family history of Alpha-1, talk to your family doctor and ask for both AAT level and AAT phenotype.  For further details on how to get tested for Alpha-1 please contact:

Alpha-1 Foundation Ireland, RCSI Education & Research Centre, Beaumont Hospital, Dublin 9.

Phone: 01-8093871. Email: alpha1@rcsi.ie 

 

National Centre for Expertise for Alpha-1 Antitrypsin Deficiency

Beaumont Hospital was designated the National Centre of Expertise for Alpha-1 Antitrypsin Deficiency in 2016 by the Department of Health.  This was in recognition of the excellent Alpha-1 clinical service at Beaumont Hospital, the research unit in the RCSI Department of Medicine at Beaumont, and the patient support services provided by the Alpha-1 Foundation.  

If you have been diagnosed with AATD and would like to be seen by a specialist at the National Alpha-1 Clinic, ask your doctor to write a referral to the National Centre of Expertise for AATD, care of Professor Gerry McElvaney, Beaumont Hospital, Dublin 9. 

If you have a query relating to an appointment in the National Centre of Expertise for Alpha-1 Antitrypsin Deficiency, please phone the clinic secretary at (01)8528626.

 

National Alpha-1 Antitrypsin Deficiency Registry

The National Alpha-1 Antitrypsin Deficiency Registry is a completely 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 provides for quick identification of those individuals who would benefit from future treatments or be candidates for clinical trials.  Any one diagnosed with AATD is eligible to enrol in the registry provided written informed consent is given.

The National AATD Registry was re-developed and re-launched on 31st July 2017 and to date, there are 554 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. 

Fig 3 alpha 1

(Figure 3:  Example of a family tree tool used on the National AATD Registry (MM – unaffected, MZ – moderate AATD, ZZ – severe AATD).


Contact Us

Further information can be obtained from: Alpha-1 Foundation Ireland, RCSI Education & Research Centre, Beaumont Hospital, Dublin 9.

Phone: 01-8093871

Email: alpha1@rcsi.ie

Website: http://www.alpha1.ie