SPC 1608 Section 3675
Friday April 5, 2013
Professor: Dr. Camesha Manzueta
Good afternoon. How many of you have heard of asthma or even COPD? Pretty much everyone. Now how many of you have heard of alpha 1 deficiency also known simply as alpha 1? There aren’t many that have. I’m going to inform you about it today. You will learn what it is, what causes it, what a patient with alpha 1 deficiency goes through and what can be done for that patient.
Up until a few years ago, I myself had no clue what alpha 1 was. It wasn’t until my mom’s COPD was correctly diagnosed as alpha 1 deficiency did I become familiar with it. From that point on it has been a whirlwind of information, research, and tests for our entire family.
So what exactly is alpha 1? Alpha 1 is a protein that is produced and distributed by the liver. It is estimated that 1 in 2,500 Americans have alpha 1 deficiency. However this disorder is commonly misdiagnosed as COPD. Alpha 1 deficiency occurs when the body does not produce enough of this protein. The deficiency is caused by the inheritance of an abnormal gene. Alpha 1 causes problems with the lungs as well as the liver. There is currently no cure for patients that suffer from alpha 1 deficiency.
. The primary responsibility of this protein is to protect the liver and lungs from certain enzymes that can be harmful to these organs. The abnormal gene is passed down from one or both parents. Without enough of the alpha 1 protein it allows certain enzymes to damage the lungs and liver. Alpha 1 is a leading factor of emphysema and can eventually lead to cirrhosis of the liver. This disorder affects people of all ages and ethnicities. 1-3% of patients diagnosed with COPD actually have alpha 1 deficiency. On average it takes 3 doctors and approximately 7 years to correctly diagnose the disorder. Alpha 1 can only be diagnosed through a blood test.
The combination of genes passed on from both parents...