Alpha 1-antitrypsin deficiency

Alpha-1 Antitrypsin Deficiency Alpha-1 Antitrypsin Deficiency also known as A1AD or AAT Deficiency is a genetic disorder. Laurell and Erickson in Sweden reported the first patients with the condition in 1963. Since their discovery much has been learned about the history if A1AD (Liebrman, 2002). The name of the disease comes from a deficiency of the serum antiprotease. This enzyme is a protein that protects the lungs from germs, dust, pollution, smoke and other inhaled chemicals. This enzyme deficiency is present at birth. In order to identify if a person has the deficiency, their blood need to be drawn for alpha-1 antitrypsin levels. Patients with a known history of A1AD and patients with repeated respiratory symptoms such as dyspena, which…

Case Study: Alpha-1 Antitrypsin Deficiency Background: Gene and Cassie Peterson live with their two children, Michael and Rose, in New York City where Gene works for a large corporation. Cassie’s father, Jared, smoked most of his life and recently passed away from complications of severe emphysema. He was known to have Alpha-1 Antitrypsin Deficiency, or AAT deficiency. At her father’s funeral, Cassie’s mother, Margaret, suggested that Cassie have herself, Michael, and Rose tested for AAT…

Some of the main causes of COPD are long term exposure to airborne irritants. Tobacco smoke, marijuana smoke, air pollutants, chemical fumes and dust can all cause the disease. The longer a person smokes, they increase their chance of developing the disease plus the heavier the smoker this will also increase their chances of disease development. In rare cases, COPD is inescapable for people born with the alpha-antitrypsin deficiency. When the mutation with the SERPINA1 gene occurs, it cause the…

doctors use the GOLD staging system. GOLD stands for “ Global Institute for Chronic Obstruction Lung Disease.” This is a specific test that measures the amount of air that a person can blow out in 1 second. This amount of air is called the forced exploratory volume (FEVI). vFrom the FEVI doctors group the patient into four stages. Stage one is the mild stage. The FEVI is 80% or more than normal. The second stage is moderate. The FEVI is less than 80 % but more than 50% of normal capacity. The…

Alpha 1-Antitrypsin Deficiency Alpha-1 antitrypsin deficiency is caused by mutations in the serpina1 gene on chromosome 14. The serpina1 gene codes for the Alpha-1 antitrypsin (AAT) enzyme which is a protein that protects the lungs, and is made in the liver.This deficiency occurs when there is a lack of a protein in the blood called alpha-1 antitrypsin. Without the protection of this protein, the lungs are more sepetable to be attacked by neutrophil elastase. Neutrophil elastase is an enzyme…

I potentially could be at risk for COPD, due to an Alpha- 1 antitrypsin deficiency, which my grandma may have had as well and may or may not have passed it down to me (she most likely did not have this deficiency, but you never know). Because of this potential, I want to focus on healthier habits, which my goals will explain. According to Köhnlein and Welte in Alpha-1 Antitrypsin Deficiency: Pathogenesis, Clinical Presentation, Diagnosis, and Treatment (2008), alpha- 1 antitrypsin deficiency is…

Tests for COPD include; Spirometry, Bronchodilator Reversibility, Chest X-ray, Computed Tomography, and Alpha-1 Antitrypsin Deficiency Testing.  Spirometry helps tell how well your lungs are working. During this test, the patient will sit down and into a spirometer which evaluates how much is breathed in and out over the course of a minute and how much air is left in your lungs.  Bronchodilator Reversibility test is the same as the spirometry test except the patient is given a bronchodilator,…

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…

includes cigarette smoking, pipe, cigar, and other types of tobacco smoke. Childhood respiratory infection, and Alpha1-antitrypsin deficiency also contributes to internal factor.The external factor includes second-hand smoke, inhaling pollutants. Besides second-hand smoking, fumes, chemicals and dust found in many work environments are contributing factors for many individuals who develop COPD. Indoor air pollution…

E - Beta myosin heavy chain is the protein that is most likely to cause the thickening of the ventricle described above. This is a major protein produced by the MYH7 gene and comprises the thick filament in cardiac muscle and plays a major role in cardiac muscle contraction. Mutations of this MYH7 cause excess thickening of the cardiac muscle, namely the left ventricle wall. It is not known how the mutation of MYH7 causes this thickening, but this thickening causes a functional impairment of…