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What is Alpha-1 Antitrypsin Deficiency?

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Alpha-1 antitrypsin deficiency (AATD) is a genetic disease wherein the individual has a greater risk of developing chronic obstructive pulmonary disease (COPD), liver disease, and skin problems such as panniculitis.

Overview of Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin (A1AT) is a protein that protects the lungs. The liver produces the protein and it’s released into the bloodstream to reach the lungs. The main role of AAT is to protect the lungs from the destructive effects of diseases and exposure to chemicals, such as those from tobacco smoke.

Normally, each person has two copies of the gene for A1AT. A baby receives one gene copy from each parent. Some people with AATD, however, have one normal copy and a damaged copy. Others, on the other hand, may receive two damaged copies. Those with one normal copy may produce enough alpha-1 antitrypsin to live healthy lives, as long as they don’t smoke.

It was Laurell and Eriksson who first noted AATD in 1963. It started when Laurell observed the absence of the band of A1AT protein in 5 of 1,500 serum protein electrophoreses (SPEP). The two scientists noted that about 3 of the 5 patients developed emphysema at a young age, and only one had a family history of emphysema. As a result, the scientists noted a triad of the characteristics of AATD – the absence of the protein, early onset emphysema, and a genetic predisposition.

Causes of Alpha-1 Antitrypsin Deficiency

The protein, dubbed as alpha-1 antitrypsin, is a protease inhibitor made in the liver. It protects the liver and lungs from damage from exposure to chemicals, microorganisms, and toxins. The term alpha-1 antitrypsin deficiency (AATD) is a condition wherein there is not enough of the protein, caused by a genetic defect.

Mutations in the SERPINA1 gene, which is inherited in a codominant model, can cause the development of AATD. As a result, the mutations lead to the absence or deficiency of the AAT in the blood. Lung damage can occur when there is an indequate amount of ATT to protect it. Meanwhile, liver damage can occur when AAT is abnormally accumulated.

Signs and Symptoms

Since there is not enough protein to protect the lungs, the primary symptom of AATD is a slowly progressive dyspnea or the difficulty of breathing. However, many patients initially suffer from symptoms of wheezing, cough, and sputum production.

AATD can present as a lung disease among adults. In some cases, people can develop lung disease. Among adults, the shortness of breath usually occurs following # mild activity and is characterized by a reduced ability to exercise. Adults may experience these symptoms between the ages of 20 and 40. The other signs and symptoms include fatigue, recurrent respiratory infections, problems with vision, unexplained weight loss, and a rapid heartbeat.

Some patients with AATD may develop advanced lung disease and emphysema. This condition is characterized by the damage to the alveoli or air sacs in the lungs. The signs and symptoms of emphysema include shortness of breath, barrel-shaped chest, and a hacking cough. People who smoke cigarettes are at a higher risk of developing these symptoms, and the effects of chronic obstructive pulmonary disease (COPD), bronchiectasis, chronic bronchitis, and asthma.

Another symptom of AATD is liver disease, also dubbed as cirrhosis. 10 percent of children afflicted with the AATD develop liver disease. Also, about 15 percent of adults with AATD develop liver disease. During the advanced stages of liver disease, the common signs and symptoms include a swollen abdomen, edema of the feet and legs, jaundice or yellowing of the skin and the whites of the eyes, and coughing up blood.

In rare cases, panniculitis can develop, which is characterized by the hardening of the skin with painful patches or lumps.


Currently, there is no cure for AATD, but the related lung diseases have many treatment options. Usually, the lung diseases are treated with common medicines and procedures used for patients with COPD.

For lung disease, the doctors may recommend certain medications such as steroids and bronchodilators to relieve wheezing and open the airways. These are usually used in patients with asthma and other lung diseases.

Also, giving the enzyme alpha-1 antitrypsin can help prevent the progression of lung disease, increasing the level of A1AT in the blood. Also, prevention is very important, hence, avoiding smoking and other activities that can damage the lungs and liver are recommended.

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