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Alpha-1 antitrypsin deficiency underdiagnosed in COPD patients in the UK

A recent study published in the European Respiratory Journal reports that despite of an increase in frequency of alpha-1 antitrypsin deficiency (AATD) testing since 1990, only 2.2% of patients diagnosed with COPD before 60 years of age were tested for AATD. With AATD diagnosis in about a quarter of those who were tested, AATD might be largely underdiagnosed in patients with COPD in the United Kingdom (UK).

This epidemiological study evaluated trends in AATD testing and diagnosis between 1994 and 2013. Data from Optimum Patient Care Research Database, which contains data from more than 650 UK practices and more than 4.5 million patient records, were used to identify 107,024 patients with COPD.

Of 27.6% individuals who were diagnosed with COPD before 60 years of age, only 2.2% (95% CI, 2.09%-2.43%) had any record of being tested for AATD. 23.7% (95% CI, 20.5%-27.1%) of those tested were diagnosed with AATD. AATD diagnosis was associated with being male, being an ex-smoker, having more severe COPD with a lower percent predicted FEV1 and higher GOLD 2017 stages (all P<.05).

Authors comment, “AATD diagnosis is very relevant for the patient in order to avoid exposure and for family screening to detect relatives affected early in the course of the disease.” The National Institute for Health and Care Excellence (NICE) guidelines differ from global guidance and do not recommend specific treatment for AATD in the UK, which could be the reason for low testing rates and lack of augmentation therapy. Authors urge NICE to reconsider being aligned to global advice.


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