National Targeted Detection Programme

National Alpha-1 Targeted Detection Programme

Alpha-1 Foundation Ireland is dedicated to increasing diagnosis, raising awareness and improving the treatment of Alpha-1 Antitrypsin Deficiency (Alpha-1). Alpha-1 is a common inherited disease but is massively under-diagnosed, and affects over 250,000 on the island of Ireland (MZ type), with 15,000 of these having severe deficiency (ZZ and SZ type). Alpha-1 can lead to severe lung, liver and skin disease. Most patients present in their 40s and 50s with early-onset emphysema or chronic obstructive pulmonary disease (COPD). A smaller group presents with liver disease in the first year of life and may require liver transplantation.

Early diagnosis is vital for health and welfare of our patients, and this is our main objective. The majority of people with Alpha-1 do not know they have the condition and many are misdiagnosed with COPD or asthma. For example, the average Alpha-1 patient in the US sees 5 doctors over 7 years to reach a correct diagnosis.  The World Health Organisation (WHO) recommends the following groups for screening:

  • All COPD patients
  • All non-responsive asthmatics
  • All cryptogenic liver disease patients
  • All first-degree relatives of known Alphas
  • People with a rare skin condition called panniculitis
  • People with vasculitis
  • Individuals with reduced blood levels of AAT

Diagnostic Services Provided

There are 3 main diagnostic services provided by Alpha-1 Foundation Ireland for the diagnosis of Alpha-1 Antitrypsin Deficiency:

  • Phenotyping
  • Genotyping
  • Quantification of serum AAT

There are also a range of ancillary services provided such as patient advice and support, referral to our specialist Alpha-1 clinic, opportunities to enrol in clinical trials, educational services, and access to the Alpha-1 patient support group.

Who is Eligible to Access our Services?

Healthcare professionals who are involved in the treatment, care and management of the patient groups specified in the World Health Organisation guidelines for screening presented above. These include:

  • Hospital laboratories
  • Consultant respiratory physicians
  • GPs
  • Research nurses
  • Physiotherapists
  • Smoking cessation officers