What is Alpha-1 Antitrypsin Deficiency?

Alpha-1 antitrypsin deficiency is an inherited disorder caused by a mutation in the genes. The body fails to produce enough of a specific protein to hold production of an enzyme involved in infection fighting. However, too much of the enzyme results in tissue damage, leading to lung disease and liver disease. There is no cure for Alpha-1 antitrypsin deficiency, but treatments allow individuals to live quality lives.

Alpha-1 antitrypsin deficiency is an inherited disorder that causes lung disease and liver disease. The condition occurs as the result of a mutation in the genes that control the production of alpha-1 antitrypsin, a protein. The alpha-1 antitrypsin protein is essential for guarding the body from an enzyme, neutrophil elastase.

The Neutrophil elastase protein is a substance our bodies depend on. It is an infection fighting substance released from our white blood cells. However, uncontrolled, neutrophil elastase goes to work on healthy tissue, most commonly the lungs.

Genetic mutations happen when there is damage or some kind of alteration to genetic DNA, causing a change in the genetic message carried by that gene.¹ Once a change occurs, the damaged genes may replicate (or reproduce), carrying the altered genetic message on and on, passed on through succeeding generations of humans. The Alpha-1 antitrypsin deficiency genetic condition causes lung and/or kidney damage, depending upon the variant present.

Most people with the genetic mutation develop lung disease symptoms of alpha-1 antitrypsin deficiency sometime between the ages of 20 and 50.

• Shortness of breath following
• Inability to exercise
• Wheezing
• Weight loss
• Repeated respiratory infections
• Fatigue
• Rapid heartbeat

Some individuals eventually develop emphysema, in which the lungs’ alveoli (small air sacs) become damaged. Smoking and exposure to tobacco smoke greatly exacerbate the symptoms of Alpha-1 antitrypsin deficiency.

A blood test that looks for specific Alpha-1 antitrypsin deficiency blood serum levels confirms presence of the disease. Then, several tests help determine the how advancement of the disease²:

• CT of the chest
• Spirometry for assessing lung function
• Liver function tests
• Liver ultrasound
• Liver biopsy

Infants born with Alpha-1 antitrypsin deficiency sometimes develop symptoms. Some may develop liver disease. In such cases, the infants often come down with jaundice, or yellowing of the skin and whites of the eyes. A small percentage of adults may end up with cirrhosis, or liver damage. Some present with a skin condition called panniculitis, where skin hardens and painful bumps emerge. A limited number of individuals with Alpha-1 antitrypsin deficiency are at risk for developing hepatocellular carcinoma, a type of liver cancer.

While there is no cure for Alpha-1 antitrypsin deficiency, there are treatments. First and foremost, individuals who smoke must quit. After diagnosis, immediate treatments are similar to those for COPD, including prescribing steroids and bronchodilators. Additionally, many receive supplemental oxygen treatment. Replacing the missing Alpha-1 antitrypsin protein is another option. In extreme cases, lung transplant is the best course of action.

¹ http://www.brooklyn.cuny.edu/bc/ahp/BioInfo/MUT/Mut.Definition.html

² http://ghr.nlm.nih.gov/condition/alpha-1-antitrypsin-deficiency