Beaumont Hospital

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National Alpha-1 Antitrypsin Deficiency Targeted Detection Programme

Alpha-1 antitrypsin (AAT) is a protein produced chiefly by the liver, but its main site of action is the lung where it protects and maintains a healthy, functioning lung.  Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder characterised by low serum levels of AAT and is associated with lung and liver disease. Smoking is the single biggest risk factor for the development of emphysema in AATD patients, and individuals with AATD who smoke develop severe early-onset emphysema.

In May 2004, the national targeted detection programme for AATD was launched by the Alpha One Foundation in Beaumont Hospital.  Funded directly by the Department of Health, the programme provides free testing to patients with chronic obstructive pulmonary disease (COPD), non-responsive asthma, cryptogenic liver disease and to relatives of AATD patients.  Upon a positive diagnosis, the Alpha One Foundation also provides a range of ancillary services to patients including counselling, expert advice, information packs and leaflets, and opportunities to enrol in clinical trials and to join the Alpha-1 patient support group.

Unfortunately, AATD is under-diagnosed with prolonged delays in diagnosis common.  In addition, the majority of AATD individuals with emphysema are misdiagnosed as COPD patients.  A recent US study showed it takes an average 5.6 years from the time symptoms first appear to accurate diagnosis.  Increased awareness and understanding of AATD is therefore vital to prevent the continuing under-diagnosis of this condition.  To this end, we have launched a national registry of AATD patients also based in Beaumont Hospital and a website (http://www.alpha1.ie/) providing a resource for doctors, patients, and the general public.

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 manifold and include:

  1. Closer observation and management of affected individuals, especially regarding pulmonary and liver health;
  2. Family member testing, at least some of whom may have lung or liver complications;
  3. Aggressive smoking cessation efforts, which have been associated with lower rates of smoking among AAT-deficient individuals;
  4. Consideration of occupational hazards and environment as exposures to some occupational dusts and vapors can accelerate pulmonary decline.

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

Contact

Further information can be obtained from:

Kitty O'Connor, Clinical Research Nurse, The Alpha One Foundation,

RCSI Education & Research Centre, Beaumont Hospital, Dublin 9.