Alpha-1 Antitrypsin Deficiency: Principles of Care

• DOI: 10.20344/amp.12950
• Publication Date: 2020-06-01T09:36:26Z
• Authors: Joana F. Rodrigues; Alexandra Mineiro; António Reis; David G. Ventura; Fernando Fernande...; Filipa Costa; Joana Gomes; José Manuel Silva; Paulo Lopes; Carlos Robalo Cor...
• Keywords: Alpha 1-antitrypsin deficiency; Alpha (finance); Proteinase inhibitor

Alpha-1 antitrypsin deficiency is an autosomal co-dominant inherited disorder that results in decreased circulating levels of alpha-1 (also known as proteinase inhibitor) and predisposes affected individuals to early onset lung liver disease. There currently no cure for deficiency. However, appropriate treatment a high standard clinical care can prevent patients from being seriously having undergo major medical interventions, such organ transplantation. Beyond managing the symptoms associated with deficiency, inhibitor therapy only condition’s underlying cause. Early diagnosis important ensure efficient therapeutic strategies minimize further deterioration function. under diagnosed globally, partly because disease has unique presenting symptoms. This document was prepared by Portuguese multidisciplinary group it aims set out comprehensive principles These include importance registries, need research, consistent recommendations (regarding diagnosis, monitoring), role reference centres, requirement sustained access treatment, diagnostic support services, patient organizations.