What is Alpha 1 Antitrypsin Deficiency?
Alpha 1 antitrypsin deficiency, also called A1AD, Alpha-1, and α1-antitrypsin deficiency, is a known inherited genetic disorder that leads to emphysema (liver or lung disease). It is defined as a disorder wherein the body has a deficient storage of alpha 1 antitrypsin, a protein that protects the liver and lung from any damaging effects. Without the protection of this protein, the lungs are vulnerable to the attack by the enzyme called neutrophil elastase. This kind of enzyme usually serves to digest aging and damaged cells of the lungs as well as bacteria and foreign invaders which enter the lungs. However if left unchecked, the enzyme will also attack healthy lung tissues.
Alpha 1 Antitrypsin Deficiency Symptoms
People who are diagnosed with such deficiency have reported the following symptoms such as:
- Shortness of breath
- Weight loss
- Recurrent respiratory infection
- Upper respiratory tract infection
- Non-responsive asthma
- Visual abnormalities
- Cirrhosis (liver disease)
- Breathing difficulty
- Hacking cough
- Barrel-shaped chest
- Swelling of the legs and feet
- Swelling of the abdominal region
People who suffer from such deficiency will later on develop emphysema (impaired function of the liver) which eventually leads to cirrhosis and, worse comes to worst, liver failure.
Alpha 1 Antitrypsin Deficiency Genetics
As mentioned earlier, the alpha 1 antitrypsin deficiency is a deficiency that is genetically related as well as inherited. The mutations that are found in the SERPINA gene lead to what is now known as alpha 1 antitrypsin deficiency, especially if there is an error in the mentioned gene. The common mutated version of the SERPINA1 gene is the allele gene called M that functions to produce normal levels of alpha 1 antitrypsin. There are actually three alleles which are normal: S, M, and Z.
Generally, there is a change in the gene that tells the body to produce the appropriate amount of alpha 1 antitrypsin. This deficiency is, as mentioned earlier, genetically inherited, or as some experts would say, a complex kind of inheritance that has up to 30 kinds of autosomal codominant alleles; in order to acquire this condition or deficiency, one must have both genes from his or her parents. If, for instance, there is only one gene, then there will be a low chance to have this kind of deficiency, but the person may be a carrier of this deficiency disorder.
Alpha 1 Antitrypsin Deficiency Diagnosis & Testing
A physician would suggest having the following tests conducted on the person suspected of having this deficiency condition, including:
- Physical examination
- Medical historical examination
- Lung or pulmonary function test (PFT)
- Genetic testing
- Chest X-ray
- Arterial blood gases testing
- Alpha 1 antitrypsin blood testing
- Chest CT scan
The physician will be able to predict whether or not a person has this deficiency when he or she develops one or more of the following conditions:
- Hepatitis (disease that affects the liver)
- Family history of liver disease
- Emphysema (at or before the age of 45)
- Emphysema without smoking history
- Family history of emphysema
Alpha 1 Antitrypsin Deficiency Treatments
The individual who suffers from alpha 1 antitrypsin deficiency is given the following treatments:
Injection of AAT protein medication through augmentation therapy
This condition is caused by the deficiency of the alpha 1 antitrypsin. Hence, the treatment is to replace what is deficient. Physicians would treat patients who have the deficiency condition with the missing Alpha1 Antitrypsin protein (AAT protein). It is given via an intravenous route. This kind of enzyme which is used in the replacement therapy is culled out from the human blood. This is given on a regular weekly or bi-weekly basis, depending on the patient’s state.
Smoking cessation and given vaccines for anti-lung-related diseases???
People who are alpha-1-antitrypsin-protein deficient need to stop smoking and avoid smoking areas. Furthermore, since they are very susceptible to lung infection, they are given immunization such as pneumonia and flu vaccinations.
In a worst case scenario, the patient may be advised to undergo a liver transplant in order to save his or her life.
The physician usually suggests that the person who is deficient with alpha 1 antitrypsin protein be medicated with the following drug classifications:
Genetic therapy counseling
This is particularly important prior to deciding to have a family. Both partners should undergo genetic therapy counseling to prevent their future offspring from acquiring the deficiency.
Alpha 1 Antitrypsin Deficiency Prognosis and Life Expectancy
This kind of deficiency condition is a progressive kind. It is not fatal when the right treatment is given. However, there is a tendency for this deficiency to be fatal. Most often, this deficiency will lead to the development of cirrhosis and emphysema which can be life-threatening. Generally speaking, there is a poor prognosis of this kind of condition. Hence, a person who suffers from this deficiency will have a low life expectancy compared to one who does not have this condition.