Makenzie

media type="youtube" key="VARv9bDGJVw" width="425" height="350" align="center"

Alpha-1 Antitryspin Deficiency

=__What is Alpha-1 Antitryspin Deficiency?__=

Alpha-1 Antitryspin Deficiency is an autosomal recessive genetic disorder caused by defective production of alpha-1 antitryspin(A1AT). This defective production of A1AT leads to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. As stated previously, Alpha-1 is an autosomal disorder which specifically affects chromosome number 14. The A1AT deficiency occurs when the AAT proteins made in the liver are not in the right shape which causes the proteins to get stuck in the liver and cannot make it into the blood stream. AAT is a protein that protects the lungs and other organs from other harmful proteins in the body. A1AT is one of the most common genetic conditions affecting individuals in the United States and Europe. In order to be classified as having Alpha-1 an individual must inherit two abnormal AAT genes, one from each parent. Individuals who have one abnormal AAT are called "carriers".

media type="youtube" key="S2u95yoK6BA" width="425" height="350" =__What is the history of Alpha-1?__=

Before the 1960's; the existence of Alpha-1 was not know to the medical profession or the public. Drs. Sten Eriksson and Carol-Bertil Laurell noted that a group of patients with a strong family history of emphysema at a young age all lack the Alpha-1 band in their serum proteins. In the 1970's; a large number of different genetic patterns were identified for Alpha-1. In the 1980's; investigators started to test whether it would be possible to replace the deficient AAT protein with Alpha-1. The 1990's saw the emergence of our understanding of Alpha 1 as a liver condition. They determined that most of the AAT proteins are made in the liver cells. During the 2000 year and beyond; currently Alpha-1 is known to be a condition affecting the release of Alpha-1 antitryspin into the blood, causing low levels of this important protein in many tissues of the body. In the lungs, these low levels make them more likely to be injured by the body's own defense mechanisms.


 * __How does Alpha-1 relate to me?__ **

My family and I just recently discovered that several of our family members have been positively identified to have and/or be a carrier for Alpha-1. My mother, aunt, and maternal grandmother have all been tested positive as having Alpha-1. I was tested today to see if my mother passed on the Alpha-1 Antitryspin Deficiency disorder to me. I await the results of the test to see if indeed I have Alpha-1.



=__Who should get tested for Alpha-1?__=


 * Family history of Alpha-1
 * Family history of emphysema, bronchiectasis, or liver disease
 * Early onset emphysema (age less that 45 years)
 * Emphysema in the absence of, or out of proportion to a recognized risk factor;such as smoking, occupational exposure, etc..
 * Chronic asthma in adolescents and adults
 * Reoccurring phenumonia or bronchitis
 * Unexplained liver disease

=__**How does someone get tested for Alpha-1?**__=

A simple blood test is required to determine if you have Alpha-1. The recommended incision area is either your middle or fourth finger. Your physician will then use a lancet device to make an incision in your finger. They will then apply drops of blood to filter paper and send it to the Alpha-1 research program,currently in Flordia.

=**__What are the symptoms of Alpha-1?__**=

A1AT is often misdiagnosed. The reason for this is because the symptoms resemble respiratory infections and asthma.


 * shortness of breath
 * rhonchi
 * rales
 * wheezing
 * reduced ability to exercise
 * reoccurring respiratory infections and chest colds
 * fatigue
 * rapid heartbeat upon standing
 * chronic cough and sputum (phlegm) production
 * eyes and skin turning yellow (jaundice)
 * swelling of the abdomen (ascities)
 * vomiting blood or passing blood in stool.

Blue: Symptoms related to lungs Green: Symptoms related to liver

=__What are the statistics and/or facts of Alpha-1?__=


 * Alpha-1 is more common in Caucasians than African Americans.
 * Amount of people believed to have Alpha-1 ranges from about 1 in every 1,600 to 1 in every 5,000.
 * Among people with A1AT who have related lung and/or liver disease, about 3% die each year.
 * Alpha-1 is mostly common in the United States and European countries.
 * It is equally distributed between men and women.
 * A healthy diet is important if you are diagnosed with Alpha-1
 * People with Alpha-1 may have sleep apnea or insomnia.
 * Alpha-1 is not a disease. Instead, it is more accurately described as a condition or a disorder that increases the risk of developing diseases; particularly of the lung and liver.
 * There is a general lack of awareness about Alpha-1 in the population at large, as well as members of the medical community.
 * Studies have shown that once a patient with Alpha-1 develops symptoms, it takes an average of 7 years and visits to 5 different doctors before the diagnosis of Alpha-1 is made. Because diseases associated with Alpha-1, such as emphysema and cirrhosis of the liver, are often identified as being self inflicted by cigarette smoking and alcohol abuse, therefore the diagnosis of Alpha-1 is frequently overlooked.
 * In the United States, it is estimated that approximately 100,000 individuals have a severe deficiency of this important protein, while approximately 25 million Americans are carriers of Alpha-1, and a similar number of people is believed to be affected in Europe.
 * There is currently no cure for Alpha-1.

=__Related Conditions__=


 * Cirrhosis
 * COPD
 * Pneumothorax
 * Asthma
 * Wegener's granulomatosis
 * Pancreatitis
 * Gallstones
 * Bronchiectasis
 * Pelvic organ prolapse
 * Primary sclerosing cholangitis
 * Autoimmune hepatitis
 * Emphysema, predominantly involving the lower lobes and causing bullae
 * Cancer;
 * Hepatocelluar carcinoma (liver)
 * Bladder carcinoma
 * Gallbladder cancer
 * Lymphoma
 * Lung cancer

=__What is the life expectancy for someone who has Alpha-1?__=

Depending on the severity of the damage done by Alpha-1, the exact life expectancy is unknown. Usually Alpha-1 will produce some sort of disability and decrease life expectancy. If you are a smoker with Alpha-1 your life expectancy can be decreased by up to 20 years.

=**__What are outside factors that contribute to Alpha-1?__**=


 * Smoking
 * Alcohol
 * Wood burning stoves and/or fireplaces
 * Working enviroment
 * Second hand smoke
 * Because the Alpha-1 is genetic, there are not many outside factors.



=__Refrences__=
 * Dr. Joshua N Aaron, MD, FCCP, FAASM
 * What is Alpha-1 Antitryspin Deficiency (Pamphlet)
 * Alpha-1 Disease Management and Prevention Program, By: AlphaNet, Inc. (Book)
 * Alpha-1 Antitryspin Deficiency-Wikipedia
 * www.nhlbi.nih.gov/health/health-topics/topics/aat/
 * www.youtube.com
 * Google Images
 * []