What is Alpha-1 Antitrypsin?

What is troubling with the AAT deficiency is that it is genetically predisposed. People only mostly notice that they have this condition when they reach adulthood.

alpha 1 antitrypsin

Known as one of the serpin superfamily protein that is found in the 14th chromosome, alpha 1 antitrypsin. The protein is usually seen in our bloodstream as well as lungs. It is very important for our body as it plays several functions. Among its wide range of functions are inhibiting proteases, transporting hormones as well as trigger immune modulatory functions.

Alpha 1 antitrypsin is also referred to like the serum trypsin as well as an alpha-proteinase inhibitor. Scientists came up with these references as it has the capacity to inhibit both proteases and trypsin in our body.

Aside from inhibiting those two, studies show that alpha 1 antitrypsin also inhibits enzymes which is crucial to the protection of neutrophil elastase and other inflammatory cells that when damaged can result in serious health conditions. At least 100 alpha 1 antitrypsin is seen, but the most mutant form known as the Z mutation has a high chance of being present in the people of North Western Europe.

Alpha 1 antitrypsin offers a lot of help to our body and of course to our overall health. To learn more about this protein, let’s discuss some facts about it starting with its role in the development of disease and the protein’s therapeutic benefit.


Medical Conditions Associated With the Lack of Alpha-1 Antitrypsin

One of the most valuable benefits that we can get from having enough alpha 1 antitrypsin is that this protein protects our lungs from having a chronic obstructive pulmonary disease or also known as COPD as well as emphysema. The question now is what will happen if a person does not have enough of this special protein in the body. If this occurs, then one can be suffering from what medical experts call as alpha 1 antitrypsin deficiency.

A genetic disease that can lead to serious liver or lung disease, alpha 1 antitrypsin deficiency commonly starts in people aged 20 to 50. The deficiency was firstly seen and observed in 1963 by scientists Eriksson and Laurell. They found the deficiency after they have failed to find the protein in five of the more than 1,000 samples of serum protein electrophoreses, which were sent to them for study. After digging deeper, they discovered that almost 80 percent of the deficiency suffered from emphysema when they were still young.

Serious lung disease and liver disease are the common end results of having insufficient alpha 1 antitrypsin since, without this protein, no enzyme will protect your lungs or liver from irritants as well as infections. Aside from COPD and emphysema, those who lack the protein are also at risk of being diagnosed with chronic bronchitis and asthma.


What Are the Signs That You Lack Alpha 1 Antitrypsin?

The genetic condition is most of the time undiagnosed for years. It is only when the patient reaches adulthood, mostly between 20 and 50 years that they experience the symptoms. Breath shortness, wheezing and lung infections are the common indicators that a patient is suffering from this condition. Unintentional weight loss, fast heart beat, and severe fatigue are the other signs that the condition has threatened your lung functions.

As for the signs that AAT deficiency has affected the liver, these include the patient having blood in the cough, swollen legs or belly as well as eyes or skin that are yellowish in color. Although, the deficiency is mostly seen in adults, there are rare cases wherein the complications have onset during the first few months of life. If the deficiency has already affected a newborn baby, the signs include poor weight gain, enlarged liver, umbilical stump or nose bleeding as well as skin and eyes yellow coloring.


How Do We Diagnose Patients With AAT Deficiency?

As always, patients will be interviewed by a medical professional to identify any family history or clinical background pointing the person to have been at risk of the protein deficiency. If a patient is suspected of having the condition, then physical tests such as careful breath listening will be performed. Blood tests will also be confirmed to assess if a patient is lacking alpha 1 antitrypsin in the bloodstream. The tests are important to assess the protein level of the person.


What Are the Effective Treatments for the Deficiency?

At the moment there are still no available treatments for this medical condition. Although the deficiency cannot still be cured, medical professionals may recommend that a patient undergo replacement therapy or augmentation therapy as popularly called by patients to increase the levels of AAT in their bloodstream. By doing this, it is expected that the patient will be protected from experiencing the complications of the condition such as lung damages.

The therapy’s objective is to halt or slow down the complications, but to emphasize it, the therapy will not cure any conditions that were already there. Another thing to take into consideration is that to help a patient, it is necessary that the therapy is applied for a lifetime. In addition to the augmentation therapy, patients will also be prescribed with other drugs such as an inhaler to support their breathing and open up the airways.


Prevention Is Better Than Cure

Since the condition is truly alarming as it could result to serious diseases and damages, it is important that those whose family history puts them at risk of having AAT deficiency should start taking care of themselves even at a young age. Having good health habits is essential to protect them from possible complications. Among the protective measures that can be done is smoke cessation, getting regular flu shot as well as having pneumonia immunization.

Experts also recommend that patients exercise on a regular basis. It will really help them if the exercises are specifically aimed to boost the functions of their lungs. Washing hands at all times to prevent being attacked by viral and bacterial infections as well as limiting the alcoholic beverages intake is also crucial to their health. Above all, adding supplements that are rich in vitamins K, E and D are truly helpful to strengthen the liver.


alpha 1 antitrypsin

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