Alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin (AAT) deficiency is an illness in which the body's AAT production is insufficient, a protein that protects the lungs and liver from harm. The disease can cause chronic obstructive pulmonary disease (COPD) and liver cirrhosis.

AAT deficiency
AAT deficiency

Causes

Protease Inhibitor Protein (AAT) is a kind of protein that inhibits the action of protease. The liver makes AAT, which helps to safeguard the lungs and liver.

AAT deficiency indicates a lack of AAT in the body. It is caused by a genetic abnormality. The condition affects people of European and North American ancestry.

Emphysema can develop in people with severe AAT deficiency, including those under the age of 40. Smoking can raise the risk of emphysema and make it develop sooner.


Symptoms

Any of the following symptoms are possible:

  1. Shortness of breath without and with effort, as well as other indications of COPD
  2. Symptoms that show liver abnormalities
  3. Weight reduction without Trying
  4. Wheezing


Diagnosis

Wheezing, a barrel-shaped chest or decreased breath sounds may be seen in a physical examination. The following tests may also assist in determining the cause of this condition:

  1. AAT blood test
  2. Arterial blood gases
  3. Chest x-ray
  4. CT scan of the chest
  5. Genetic testing
  6. Lung function test


If you develop any of the following symptoms, it is possible that you have this condition:

  1. Before age 45, people with chronic obstructive pulmonary disease (COPD) are more likely to develop the condition.
  2. You have asthma or COPD, but you haven't smoked or been exposed to toxins before.
  3. If you have COPD and a family history of the disease,
  4. There is no apparent cause for cirrhosis, but no other scenario can be found.
  5. If you have cirrhosis and a family history of liver disease,


Treatment

AAT deficiency can be treated by replacing the missing AAT protein. Every 4 weeks, the protein is administered via a vein. This is only somewhat helpful in people who do not have an end-stage disease. Augmentation therapy is the term used to describe this treatment.

Quitting smoking is a must.

COPD, as well as cirrhosis and other diseases, can be treated with a variety of therapies.

In severe cases, a lung transplant may be used to repair severe lung disease. A liver transplant may also be utilized to cure serious cirrhosis.


Prognosis

Many individuals with this condition do not develop liver or lung disease. If you quit smoking, you may slow the spread of lung illness. If not treated promptly, chronic obstructive pulmonary disease (COPD) and cirrhosis can be deadly.


Possible Complications

There may be a number of unwanted effects, some more serious than others. AAT deficiency can lead to a slew of adverse effects. The following are some of the most common problems associated with AAT insufficiency:

  1. damage of the large airways
  2. Chronic obstructive pulmonary disease 
  3. Liver problems or cancer are both possible


When Should You Seek Medical Assistance?

Seek advice from your healthcare provider if you have symptoms of AAT insufficiency.


Alternative Names for this condition

  1. AAT deficiency; 
  2. Alpha-1 protease deficiency; 
  3. COPD - alpha-1 antitrypsin deficiency; 
  4. Cirrhosis - alpha-1 antitrypsin deficiency