In 2011, the third leading cause of death in the United States was due to Alpha-1 Antitrypsin Deficiency (AAT). Alpha-1 antitrypsin is an inherited disease within the liver causing lung and liver disease. Alpha-1 antitrypsin is a protein produced in liver traveling through the bloodstream. The main function is to protect organs such as the lungs, from harmful substance such as proteolysis that causes inflammation. Alpha-1 antitrypsin deficiency occurs because the AAT protein is trapped in the liver therefore not able to enter the bloodstream. The result is the increase risk of developing lung and liver disease because the AAT protein is trapped in the liver cells and unable to get to the lung tissue. According to the National Heart, Lung, and Blood Institute, people who have AAT deficiency has no cure; however, treatments are the same for those with lung disease known as emphysema (nhlbi.nih.gov 1).  It is necessary to raise awareness about this commonly overlooked disease causing the increase risk for chronic lung and liver disease.

This shows a healthy Lung to one with Alpha-1 Deficiency.

 

Having Alpha-1 antitrypsin deficiency is most common in the European descent. About 3.7 million Caucasians affected by Alpha -1 deficiency in 2006. Individuals suffering from the inherited disease often develop signs and symptoms around the ages 20 and 50. Causes of Alpha-1 antitrypsin deficiency include environmental exposure such as dust, fumes, and other toxic substances. However, the main cause of Alpha-1 antitrypsin deficiency is from tobacco smoking. When smoking tobacco it causes the bronchial tubes to get destroy leading to the shortness of breath. This causes the damage of alveoli in the lungs. Alveoli are tiny air sacs within the lungs that start the conversion of oxygen into carbon dioxide. An article from smokefree.gov stated, “Alveoli don’t grow back, so when you destroy them, you have permanently destroyed part of your lungs (smokefree.gov).” The result of damage lung tissue leads to the disease called emphysema. Emphysema is the primary symptom of Alpha-1 antitrypsin deficiency.

This shows how smoking effects the Lungs

 

 Emphysema or Chronic obstructive pulmonary disease is a chronic lung disease develop after years of exposure of tobacco smoking. Other contributing factors include environmental toxins within the atmosphere. “In 2006, a report sent out from the American Lung Association stating individuals who suffer some emphysema often experience coughing, wheezing, and shortness of breath. In America about 4.1 million individuals aged 40 and older, were diagnosed with Emphysema (American Lung Association).” The reason why emphysema is also known as the black lung is because of high exposer to fine dust in coal mining. Coal miners are the second most common to suffer from emphysema. Inhaling fine dust in the air starts to attack the alveoli over time. An academy study group states, “Alveoli are tiny air sacs within the lungs that conversion oxygen into carbon dioxide between the lung and bloodstream (study.com).” This relates to Alpha -1 antitrypsin deficiency because not enough alpha-1 antitrypsin protein was present to protect the lung tissue from dust exposure within the coalmines.

This is a photo showing what an alveoli is and where it is within a lung

 

Individuals with alpha-1 antitrypsin deficiency have a higher risk factor of receiving liver disease and abnormal liver function. Infants and children develop abnormal liver function known as cholestasis. A graduate doctor in the medical field from Thomas Jefferson University named Steven K. Herrine states, “Cholestasis is a condition when the liver stops secreting a digestive fluid called bile. When bile builds up within the liver it causes cholesterics jaundice, which is yellowing of the skin (Herrine).” The progression of liver failure and liver disease leads to fatal death without a liver transplant. However, individuals with alpha-1 antitrypsin deficiency that will develop liver disease predicted through the family history depending on the mutation of the gene.  

An example of a newborn baby with Cholesterics Jaundice

 

Although there is not a known cure for Alpha -1 antitrypsin deficiency simple steps can help prevent it from getting worse. Most treatments are the same as for those with lung disease and asthma. Individuals with a smoking addiction should find ways to help quit. The National Heart, Lung, and Blood Institute recommend limit the exposure of environmental toxins and second hand smoke (NIH). Augmentation therapy is the most common treatment for those with server lung damage.  Augmentation therapy helps increase alpha -1 protein in the lungs by replacing the deficient protein damaging the lung. An article from the Alpha-1 Foundation states, “This therapy helps reduce the frequency and severity of pulmonary exacerbations (flare-ups of lung disease) and effective treatment for alpha-1 skin disease, Necrotizing Panniculitis (alpha1.org).” It is important to remember that this treatment does not cure the lung disease but only to help prevent worse inflammation. In some cases, patients also may receive a lung transplant removing damage portions of the lung.

Works Cited

“Alpha-1 Antitrypsin Deficiency | Alpha 1 Antitrypsin | MedlinePlus.” MedlinePlus Trusted Health Information for You. 30 Aug. 2016. Web. 09 Mar. 2017.

“Alpha-1 Antitrypsin Deficiency – Genetics Home Reference.” U.S. National Library of Medicine. National Institutes of Health, Web. 09 Mar. 2017.

Anariba, Dora I. “Alpha1-Antitrypsin Deficiency.” Background, Pathophysiology, Epidemiology. Ed. John J. Oppenheimer. American Heart Association, 03 Mar. 2017. Web. 09 Mar. 2017.

Herrine, Steven K. “Cholestasis – Liver and Gallbladder Disorders.” Merck Manuals Consumer Version. N.p., n.d. Web. 09 Mar. 2017.

Nurmi, Deborah L., MS, and Michelle Queneau Bosworth, MS, CGC. “A Lpha-1 Antitrypsin Deficiency.” The Gale Encyclopedia of Genetic Disorders. Ed. Tracie Moy and Laura Avery. 4th ed. Vol. 1. Farmington Hills, MI: Gale, 2016. 108-112. Gale Virtual Reference Library. http://go.galegroup.com.chaffey.idm.oclc.org/ps/i.do?p=GVRL&sw=w&u=ranc95197&v=2.1&it=r&id=GALE%7CCX3630400042&asid=7b793b2f8d1b8f700f1e2efaeb59e4eb . 7 Mar. 2017.

Skinner, Patricia, and Angela M. Costello. “Emphysema.” The Gale Encyclopedia of Alternative Medicine. Ed. Laurie J. Fundukian. 4th ed. Vol. 2. Farmington Hills, MI: Gale, 2014. 822-828. Gale Virtual Reference Library. http://go.galegroup.com.chaffey.idm.oclc.org/ps/i.do?p=GVRL&sw=w&u=ranc95197&v=2.1&it=r&id=GALE%7CCX3189900305&asid=4bf2c23907184b1c55dd9e8b9de4b426. 7 Mar. 2017.

“What Is Alpha-1 Antitrypsin Deficiency.” National Institutes of Health. U.S. Department of Health and Human Services, 11 Oct. 2011. Web. 09 Mar. 2017.