Alpha-1 Antitrypsin Deficiency: Principles of Care.

Alpha-1 Antitrypsin Deficiency: Principles of Care. Acta Med Port. 2020 Jun 01;33(6):433-439 Authors: Rodrigues JF, Mineiro A, Reis A, Ventura DG, Fernandez-Llimos F, Costa F, Gomes J, Silva JM, Lopes P, Cordeiro CR Abstract 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 recommend...
Source: Acta Medica Portuguesa - Category: General Medicine Tags: Acta Med Port Source Type: research