Alpha 1 Antitrypsin Research Paper

An inherited disorder identified as Alpha-1 Antitrypsin is a commonly disregarded source of lung disease. (1) To begin, this essay will include a general description of the disorder, highlight the pattern of inheritance, biology of the condition and lastly, how the condition can be inherited or diagnosed. The disorder induces low levels of the Alpha-1 antitrypsin protein in the blood, essentially harming the lungs and in return making the simple task of breathing increasingly difficult for the affected individual. (4) This A1AT protein is produced in the liver and subsequently pumped into the bloodstream, therefore regulation of the protein is necessary in order to maintain and protect the lungs. (4) Globally, Alpha-1 antitrypsin has an impact on approximately “1 in 1500 to 3500 …show more content…
(2) Initial symptoms include “shortness of breath and wheezing, repeated lung infections, rapid heartbeat upon standing, weight loss” etc. Meanwhile, other individuals display minimal symptoms throughout life and develop zero complications due to the disorder. (3) A common issue with A1AT disorder is greatly due to the fact that most cases are rarely diagnosed. (2) Numerous cases of A1AT are either misdiagnosed as asthma or consequently linked to patients with COPD. (2) COPD stands for “chronic obstructive pulmonary disease” which is a lung condition that has a strong correlation to the disorder, as it is commonly a cause of a defect in A1AT (2) Additionally, many individuals present with emphysema, which is caused by the degradation of the lungs due to the lack of A1AT in the bloodstream, causing damage to the alveoli in the lungs. (4) Emphysema affects the function of the alveoli making it increasingly difficult for the affected individual to exchange gases throughout the lungs.