RT Journal Article
SR Electronic
T1 Disease burden associated with alpha-1 antitrypsin deficiency: systematic and structured literature reviews
JF European Respiratory Review
JO EUROPEAN RESPIRATORY REVIEW
FD European Respiratory Society
SP 210262
DO 10.1183/16000617.0262-2021
VO 31
IS 163
A1 Miravitlles, Marc
A1 Herepath, Mike
A1 Priyendu, Asim
A1 Sharma, Sheetal
A1 Vilchez, Tatiana
A1 Vit, Oliver
A1 Haensel, Michaela
A1 Lepage, Virginie
A1 Gens, Helena
A1 Greulich, Timm
YR 2022
UL http://err.ersjournals.com/content/31/163/210262.abstract
AB Alpha-1 antitrypsin deficiency (AATD) is a rare genetic disorder characterised by reduced levels of circulating alpha-1 antitrypsin and an increased risk of lung and liver disease. Recent reviews of AATD have focused on diagnosis, epidemiology and clinical management; comprehensive reviews examining disease burden are lacking. Therefore, we conducted literature reviews to investigate the AATD disease burden for patients, caregivers and healthcare systems. Embase, PubMed and Cochrane libraries were searched for AATD publications from database inception to June 2021, in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Most published AATD studies were small and short in duration, with variations in populations, designs, measures and outcomes, complicating cross-study comparisons. AATD was associated with significant pulmonary and hepatic morbidity. COPD, emphysema and bronchiectasis were common lung morbidities, where smoking was a key risk factor. Fibrosis and steatosis were the most common liver complications reported in patients with a PiZ allele. Health status analyses suggested a poorer quality of life for AATD patients diagnosed with COPD versus those with non-AATD-associated COPD. The burden for caregivers included loss of personal time due to caring responsibilities, stress and anxiety. AATD was also associated with high direct medical costs and healthcare resource utilisation.AATD is a rare genetic disorder associated with a considerable burden of lung and liver disease and high healthcare resource utilisation. However, available data are scarce and further research is needed to better understand the burden of this disease. https://bit.ly/3IWtQQ1