What is Alpha-1 Antitrypsin Deficiency?
Genetics-Resized.jpgAlpha-1 antitrypsin deficiency is an inherited condition (passed from parents to children through genes) which effects the level of the protein Alpha-1 antitrypsin in the bloodstream.
Alpha-1 antitrypsin, also called AAT is a protein that is made in the liver. Normally this protein travels through the bloodstream to other areas of the body where it helps protect the organs, like the lungs, from the harmful effects of other proteins.
AAT deficiency occurs when the AAT proteins being made in the liver are abnormal and cannot be released from the liver at the normal rate. As a result not as many proteins are able to make it to the bloodstream, causing lower numbers to make it to the lungs. Without enough AAT protein, the lungs can be damaged making breathing more difficult.
The lower level of alpha-1 antitrypsin in the bloodstream increases a patients risk of lung disease, and can also increase the risk of liver disease if too many proteins are trapped in the liver.
Signs & Symptoms
Many people who have the condition may not know they have it and do not suffer with serious complications. Symptoms of AAT deficiency typically appear between the ages of 20 and 40 and include:
- Shortness of breath with mild activity
- Lessened ability to be physically active
- Wheezing
- Repeated respiratory infections
- Chronic bronchitis, which cough and phlem production lasts a long time.
- Year-round allergies
- Bronchiectasis
- Tiredness
- Rapid heartbeat upon standing
- Vision problems
- Unintentional weight loss
Prevention
AAT deficiency can not be prevented because the condition is inherited. Even if a patient inherits the genes they may never develop the symptoms or diseases related to this condition.
Patients are able to take steps to prevent or delay lung diseases related to AAT deficiency. The most important step is to quit smoking. Smoking and exposure to tobacco smoke increases the risk of lung related symptoms and lung damage in those with Alpha-1 antitrypsin deficiency. Patient suffering with a severe AAT deficiency can shorten their life expectancy by as much as 20 years if they continue to smoke.
Exposure to second hand smoke, dust, fumes and toxic substances that may be inhaled also increases the risk of lung disease in patients suffering with AAT deficiency.
Diagnosis
AAT deficiency is often diagnosed after a patient develops a lung or liver disease related to the condition. A doctor may suspect AAT deficiency if a patient has signs or symptoms of a serious lung condition without any obvious cause.
AAT deficiency can not be diagnosed by symptoms or a medical examination alone; patients need to get a simple, reliable blood test to know for sure. Typically, three types of tests are done on the blood sample:
- Alpha-1 genotyping which examines a patient’s genes and determines their genotype.
- Alpha-1 antitrypsin PI type of phenotype test, which determines the type of AAT protein a patient has.
- Alpha-1 antitrypsin level tests which determines the amount of AAT protein in a patient’s blood.
Treatment
Ongoing medical care is vital when suffering with AAT deficiency. By working closely with a healthcare team patients will learn how to manage their condition and function at their best.
While there is no cure for AAT deficiency, treatment is available for the symptoms associated with the condition, including:
- Medicines called inhaled bronchodilators and inhaled steroids help open airways making it easier to breathe.
- Vaccines for the flu and pneumococcal diseases to help prevent illnesses which could make conditions worse.
- Prompt treatment of respiratory infections to help prevent further lung damage and complications.
- Pulmonary rehab to learn how to manage conditions and function and allow patients to function at their best.
- Supplemental oxygen, if needed. Augmentation therapy which involves getting infusions of the AAT protein to raise the level of the portion in a patient’s blood and lungs. Some researchers believe this may help to slow the development of AAT deficiency in those who have not yet been severely effected.