Alpha-1 antitrypsin deficiency (AATD) is highly prevalent in Portugal. It is estimated that 1:5249 individuals have a ZZ genotype, and 1:281 have a SZ genotype [1]. Patients with AATD have recently been proposed as a susceptible population for COVID-19 and disease severity [2]. Data from an Italian registry of AATD revealed a geographical distribution of AATD similar to that of . A significant positive correlation was reported between the combined frequencies of the PI*SZ genotype in 67 countries and their reported COVID-19 mortality [4]. In January 2021, Portugal presented one of the highest incidences of SARS-CoV-2 infection and mortality in the world [5].Based on these assumptions and in an attempt to address the risk of COVID-19 infection in a Portuguese cohort, we gathered data from all AATD patients followed at Pulmonology consultation in our tertiary hospital in Porto. In Portugal there is a national COVID-19 status database where all SARS-CoV-2 swab results are registered. We checked all our AATD patients' SARS-CoV-2 positive results until the end of January 2021. AATD patients with a diagnosis of COVID-19 were compared with the remaining AATD cohort regarding pre-infection α1-antitrypsin
Alpha-1 antitrypsin deficiency is an autosomal co-dominant inherited disorder that results in decreased circulating levels of alpha-1 antitrypsin (also known as alpha-1 proteinase inhibitor) and predisposes affected individuals to early onset lung and liver disease. There is currently no cure for alpha-1 antitrypsin deficiency. However, appropriate treatment and a high standard of clinical care can prevent patients from being seriously affected and having to undergo major medical interventions, such as organ transplantation. Beyond managing the symptoms associated with alpha-1 antitrypsin deficiency, alpha-1 proteinase inhibitor therapy is the only treatment for the condition’s underlying cause. Early diagnosis is important to ensure efficient therapeutic strategies and to minimize further deterioration of lung function. alpha-1 antitrypsin deficiency is under diagnosed globally, partly because the disease has no unique presenting symptoms. This document was prepared by a Portuguese multidisciplinary group and it aims to set out comprehensive principles of care for Alpha-1 antitrypsin deficiency. These include the importance of registries, the need for clinical research, the need for consistent recommendations (regarding diagnosis, treatment and monitoring), the role of reference centres, the requirement for sustained access to treatment, diagnostic and support services, and the role of patient organizations.
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