What is Alpha-1 Antitrypsin Deficiency?

Alpha-1 Overview -Symptoms & Causes of Alpha-1

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. Early symptoms include:

  • 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.

Sources:

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

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

http://genefacts.org/index.php?option=com_content&view=article&id=511&Itemid=740.

http://genefacts.org/index.php?option=com_content&view=article&id=512&Itemid=741

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Glossary

alveolus air sac where gas exchange takes place.
angina chest pain.
aorta blood vessel that delivers oxygen-rich blood from the left ventricle to the body; it is the largest blood vessel in the body.
apex top portion of the upper lobes of the lungs.
atrium one of the two receiving chambers of the heart.
base bottom portion of lower lobes, located just above the diaphragm.
blood pressure pressure of blood against the walls of a blood vessel or heart chamber.
bronchiolitis inflammation that involves the bronchioles (small airways).
bronchoscopy the examination of the bronchi (the main airways of the lungs) using a flexible tube (bronchoscope). Bronchoscopy helps to evaluate and diagnose lung problems, assess blockages, obtain samples of tissue and/or fluid, and/or to help remove a foreign body.
bronchus large airways; lung divides into right and left bronchi.
cardiac output total amount of blood being pumped by the heart over a particular period of time.
catheter thin, flexible medical tube; one use is to insert it into a blood vessel to measure blood pressure.
constrict tighten; narrow.
cyanosis bluish color in the skin because of insufficient oxygen.
diaphragm primary muscle used for respiration, located just below the lung bases.
diastolic pressure lowest pressure to which blood pressure falls between contractions of the ventricles.
dilate relax; expand.
dyspnea sensation of difficulty in breathing.
edema swelling due to the buildup of fluid.
endothelial cells the delicate lining, only one cell thick, of the organs of circulation.
expiration exhaling; giving off carbon dioxide.
heartbeat one complete contraction of the heart.
hyperactive describes a situation in which a body tissue is especially likely to have an exaggerated reaction to a particular situation.
hypertension abnormally high blood pressure.
hypotension abnormally low blood pressure.
inspiration inhaling; taking in oxygen.
lobectomy removal of an entire lobe of the lung.
lung volume the amount of air the lungs hold.
mean blood pressure average blood pressure, taking account of the rise and fall that occurs with each heartbeat. It is often estimated by multiplying the diastolic pressure by two, adding the systolic pressure, and then dividing this sum by three.
palpitation sensation of rapid heartbeats.
perfusion flow.
pleura membrane that covers the outside of the lung.
pneumonectomy removal of an entire lung.
pulmonary artery blood vessel delivering oxygen-poor blood from the right ventricle to the lungs.
pulmonary hypertension abnormally high blood pressure in the arteries of the lungs.
smooth muscle muscle that performs automatic tasks, such as constricting blood vessels.
spirogram record of the amounts of air being moved in and out of the lungs.
syncope fainting; temporary loss of consciousness.
systemic relating to a process that affects the body generally; in this instance, the way in which blood is supplied through the aorta to all body organs except the lungs.
systolic pressure the highest pressure to which blood pressure rises with the contraction of the ventricles.
vasodilator agent that widens blood vessels.
ventilation movement of air (gases) in and out of the lungs.
ventricle one of the two pumping chambers of the heart; right ventricle receives oxygen-poor blood from the right atrium and pumps it to the lungs through the pulmonary artery; left ventricle receives oxygen-rich blood from the left atrium and pumps it to the body through the aorta.