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Trends of testing for and diagnosis of α1-antitrypsin deficiency in the UK: more testing is needed

Joan B Soriano1, Sarah J Lucas2, Rupert Jones3

  • 1Instituto de Investigación Hospital Universitario de la Princesa (IISP), Universidad Autónoma de Madrid and SEPAR, Madrid, Spain.

The European Respiratory Journal
|June 2, 2018
PubMed

Insights

Alpha-1 antitrypsin deficiency (AATD) testing remains low in COPD patients, with only 2.2% tested before age 60. Despite increased testing, AATD is significantly underdiagnosed in this population.

Area of Science:

  • Pulmonology
  • Genetics
  • Epidemiology

Background:

  • Alpha-1 antitrypsin deficiency (AATD) is a genetic condition that significantly increases the risk of developing chronic obstructive pulmonary disease (COPD).
  • International guidelines recommend testing all COPD patients for AATD due to its strong association with the disease.

Purpose of the Study:

  • To analyze trends in AATD testing and diagnosis among COPD patients in the UK from 1990 to 2014.
  • To assess the prevalence of AATD in COPD patients diagnosed before the age of 60.

Main Methods:

  • Retrospective analysis of the UK Optimum Patient Care Research Database.
  • Inclusion of approximately 107,024 individuals diagnosed with COPD.
  • Subgroup analysis of patients diagnosed with COPD before age 60.

Main Results:

  • Only 2.2% of COPD patients diagnosed before age 60 had a record of AATD testing.
  • Among those tested, 23.7% were diagnosed with AATD.
  • AATD diagnosis was associated with male gender, ex-smoker status, more severe COPD, and higher GOLD stages.

Conclusions:

  • Despite recommendations and a general increase in testing, AATD remains significantly underdiagnosed in COPD patients.
  • Current testing rates suggest a substantial gap in identifying individuals with AATD among the COPD population.

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