What is Alpha-1 Antitrypsin?

Alpha-1 Antitrypsin (AAT) is a class of protein classified under the serpin superfamily. It protects the lungs from damage caused by an enzyme called elastase.

Alpha-1 Antitrypsin

Alpha-1 Antitrypsin (AAT) is a class of protein classified under the serpin superfamily. It protects the lungs from damage caused by an enzyme called elastase. An enzyme produced by the white blood cells that fight infections.

If alpha-1 antitrypsin is reduced, it allows the increase of elastase. Minimum supply of alpha-1 antitrypsin in the bloodstream could cause damage to lung tissues and may develop emphysema. A deficient supply of alpha-1 antitrypsin could also lead to potential liver disease like jaundice that makes the skin appear yellowish. AAT starts from your liver then travels through the lungs and other organs of the body.

Alpha-1 Antitrypsin Deficiency (AAD)

The term was first described in 1963 by Carl-Bertil Laurell and Sten Eriksson. They reported a link between low levels of alpha-1 antitrypsin and emphysema. In a study they conducted, they observed that 60% of their patients had lung disease at an early age. Others had a genetic background of emphysema. Thus, they concluded that the primary clinical factors resulting in alpha-1 antitrypsin deficiency are; minimal to an absence of AAT to organs, early onset of emphysema, and genetic background.

Alpha-1 antitrypsin is produced in your liver. When your liver does not supply enough AAT into the bloodstream it leaves the lungs vulnerable from infections and other irritants, like cigarette smoke, that could damage lung tissues.

If a person has AAD, they might not notice the symptoms until in their 20s or 30s. When the symptoms start, they may experience shortness in breathing similar to people with asthma.

Diseases Linked to AAD

It can also lead to a more serious case like chronic pulmonary obstructive disease (COPD). It has some symptoms same with emphysema. Moreover, it causes the lungs to push air out harder, which leads to severe coughing and makes chest feel tight.

Chronic bronchitis is another lung disease associated with alpha-1 antitrypsin deficiency. It is an irritation causing mucus buildup which makes it harder to breathe.

There’s no cure for AAD, but treatments help the patient to manage breathing and liver problems. Medication may include an inhaler which the person will be carrying anywhere and will be using throughout your life. It is the same type of medicine used by people with asthma.

Since the person with AAD may carry it for a lifetime, support from family and friends will be helpful. And ask your doctor if he knows any support groups for people going through the same experience as you. It will be very helpful in talking to people understanding your situation.

Not all alpha-1 antitrypsin deficiency has the same cases. With proper treatment and support from loved ones. We can still go on with our daily lives; work, hobbies, travel, and exercise.

Causes

It is known as a hereditary or genetic disease, which means it was passed on by your parents. Some people don’t inherit it or some may have a mild case of AAD.

The faulty genes you inherited from your parents causes your liver to transport less alpha-1 antitrypsin into the bloodstream. It leads this protein to build up that causes damage in your liver. Then low levels of alpha-1 antitrypsin to bloodstream causes damage to your lungs.

AAD may not be detected until early adulthood, however, people who smoke cigarettes and exposure to a dusty environment and secondhand smoke may cause the lung disease to develop early.

Symptoms

AAD symptoms may start to appear until between ages 20 to 30. Its hallmark is shortness in breath that you may experience even doing a simple physical task. You may also start to notice a wheezing or whistling sound in your breath.

If the infected organ is the lung, symptoms are as follows:

  • Shortness of breath
  • Fatigue
  • Weight loss
  • Severe coughing with thick mucus production
  • A wheezing sound when breathing
  • Increase in heart rate
  • Chest pains

Symptoms from an affected liver due to AAD are as follows:

  • Jaundice – the yellowish discoloration of the skin or part of the eye.
  • Vomits blood or blood in your stool
  • Feet or belly swells

You may also notice the red, warm, and painful lumps under your skin.

We might also notice symptoms to newborn infants; a yellowish discoloration of the eyes, skin and to the infants’ urine, swollen liver, underweight, and nosebleeds or bleeding from the stump of the umbilical.

And in some rare events, it could lead to a skin disease called panniculitis. It hardens the skin with painful patches.

Diagnosis

The doctor will evaluate your situation and check if your lungs are working properly. Then your blood will be tested for faulty genes that cause low levels of alpha-1 antitrypsin. They will also monitor how much of the protein is being released or supplied in your bloodstream.

An x-ray will also be necessary to check the condition and how much damage AAD has cost in your lungs and liver. It can also reveal signs of emphysema.

A special blood test may also be conducted to check the condition of your liver. A liver biopsy may also be ordered by your doctor, if necessary, to evaluate the condition of your liver.

Treatment

A therapy called augmentation therapy may also be ordered by your doctor. This is to increase the levels of proteins in your bloodstream. Thus, it temporarily protects your lungs from any infections and irritations. This treatment is usually given to people with emphysema.

Another term for this therapy is “replacement therapy”. This is because the new supply of alpha-1 antitrypsin comes through a blood transfusion from a healthy individual donor. You may undergo treatment once a week. This will depend on the doctor’s order. Treatment may be done at home or at the hospital.

It won’t reverse the effects of AAD; however, it will stop further damage in your lungs. You may need to undergo this treatment throughout your life.

Medications will also play an important role in your treatment. One example is the inhaler. Which you may have to carry anywhere you go. Another term for this is, “bronchodilator”.

Although there’s no cure for alpha-1 antitrypsin deficiency, through treatment, a healthy lifestyle, and more importantly the support from your loved ones, living a normal life is achievable.

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