Alpha-1 Antitrypsin Deficiency

1.0 INTRODUCTION

Imagine you are walking through the park; it’s a warm day, you are surrounded by beautiful flowers, grass, and trees. Now imagine that these normal, everyday activities such as, walking outside on a humid day, make it more difficult for you to breathe. Instead of taking a normal breath, you are only able to inhale at thirty percent capacity. That is like breathing through the end of a tiny crimped straw. Also, imagine having to carry various inhalers and oxygen as part of an everyday routine. This is how it feels to have Alpha-1 Antitrypsin Deficiency, also known as early onset emphysema. For someone with Alpha-1 Antitrypsin Deficiency, everyday tasks can seem nearly impossible. Simply walking upstairs or raking leaves become extremely difficult chores. Alpha-1 Antitrypsin Deficiency is a genetic disorder that affects the lining of the lungs, making the body more susceptible to inhaled irritants and infections. As part of the family of Chronic Obstructive Pulmonary Diseases (COPD), often, Alpha-1 Antitrypsin Deficiency can be misdiagnosed as asthma or chronic bronchitis. In addition to lowered immunity, those with Alpha-1 Antitrypsin Deficiency have decreased lung capacity and various liver problems. The disease can be detected through a series of blood tests and other physical imaging scans. While there is currently no cure for Alpha-1 Antitrypsin Deficiency, there are known ways to minimize the symptoms allowing those with the illness to live a more typical lifestyle.

2.0 HISTORY

Alpha-1 Antitrypsin Deficiency was discovered in Sweden in 1963. Two physicians named Sten Eriksson, a clinician, and Carl-Bertil Laurrell, who led a clinical lab, ran different tests on individuals that were all diagnosed with chronic lung disease. After several long months of research, the two clinicians realized that the same enzyme, known as Alpha-1 Antitrypsin, was missing out of several of the patients. A chemical analysis of the patients’ blood showed that they were lacking Alpha-1 Antitrypsin, which was clearly a very important substance. The name of the disease originated from the serum antiprotease deficiency, also known as AAT.

3.0 GENETICS

Alpha-1 Antitrypsin Deficiency is characterized by the lack of a protective protein. Alpha-1 Antitrypsin is a protein made in the liver, which is then released into the bloodstream. This protein helps protect the lungs from inflammation caused by infection, tobacco smoke, and other inhaled irritants. Also, it plays an important role in preventing the breakdown of enzymes in various organs. In order to maintain proper levels of Alpha-1 Antitrypsin, an individual must receive two M (normal) genes from each parent. While an estimated 20 million people carry the recessive defective A1AT gene, only people who have two copies of this autosomal gene will be affected. The disease mostly affects