More testing for alpha-1 antitrypsin deficiency is needed in the UK

Chronic obstructive pulmonary disease (COPD) is a major cause of chronic morbidity and the third leading cause of death worldwide. Alpha-1-antitrypsin (AAT) deficiency significantly increases the risk of developing COPD. AAT deficiency (AATD) is a genetic disorder characterized by low serum levels of AAT, which at normal levels protects the lung alveoli from damage. Severe AATD can lead to pulmonary emphysema. Global guidance from the World Health Organization, European Respiratory Society and the Global Initiative for Chronic Obstructive Lung Disease recommends testing AAT levels in blood serum of all COPD patients.

In the UK, previous estimates of the prevalence of AATD are outdated and suggest that it is underdiagnosed. In May 2018, a REG study was published in the European Respiratory Journal that determined recent trends in testing and diagnosing AATD among COPD patients in the UK from 1990 to 2014. The Optimum Patient Care Research Database was used to identify patients with a diagnostic code for COPD from about 550 UK general practices. Analysis focused on those diagnosed with COPD before the age of 60 years.

The study identified over 100,000 patients with COPD, of whom over a quarter were diagnosed before 60 years of age. Between 1994 and 2013 the incidence of AATD diagnosis increased among all age groups and both genders, mostly due to an increase in new testing for AATD from around 0% in 1994 to around 1.3% in 2013. However, despite the increase in testing, still only 2.2% of COPD diagnosed before the age of 60 were ever tested for AATD in the period 1990-2014. Of those tested, 24% were diagnosed with AATD. These findings indicate that AATD remains markedly underdiagnosed in COPD patients in the UK and that more testing is needed.

  • Soriano JB, Lucas SJ, Jones R, Miravitlles M, Carter V, Small I, Price D, Mahadeva R. Trends of testing for and diagnosis of alpha-1 antitrypsin deficiency in the UK: more testing is needed. Eur Respir J. 2018 May 31. pii: 1800360.

http://erj.ersjournals.com/content/early/2018/05/10/13993003.00360-2018

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