Alpha-1 Antitrypsin Deficiency, Causes, Diagnosis, Treatment, Prevention, Complications

Alpha-1 Antitrypsin Deficiency, Causes, Diagnosis, Treatment, Prevention, Complications

Alpha-1 antitrypsin deficiency is a hereditary disease that occurs due to a deficiency or absence of alpha-1 antitrypsin protein in the body. This can cause disorders in the lungs and liver. Generally, people with this disease begin to feel the appearance of symptoms at the age of 20-50 years.

Normally, the antitrypsin alpha-1 protein is produced by the liver. This protein plays an important role in protecting the lungs and liver from infection or irritation that can damage both organs.

However, in alpha-1 antitrypsin deficiency, changes or mutations occur in certain genes. Mutations in this gene cause the liver to produce less or no protein alpha-1 antitrypsin. When the body lacks this protein, the lungs and liver are more susceptible to damage.

Causes of Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin deficiency occurs due to mutations in the serine protease inhibitor (SERPINA)1 gene that regulates the production of alpha-1 antitrypsin protein in the liver. This gene mutation causes the formation of abnormal proteins that cannot work properly so that the body experiences alpha-1 antitrypsin deficiency.

Alpha-1 antitrypsin deficiency is a condition that is passed from parents to children. Generally, children will experience symptoms if the abnormal gene is inherited from both parents. If the abnormal gene is only inherited from one parent, the child does not experience symptoms, but will be a carrier of the abnormal gene (carrier).

Symptoms of Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin works by controlling neutrophil enzymes so they don't attack healthy cells. The neutrophil enzyme itself functions to fight infection if the number does not exceed normal limits in the body.

If the liver produces only a small amount of the protein alpha-1 antitrypsin that can work properly, the number of neutrophil enzymes will exceed normal limits and will attack healthy cells. As a result, complaints will appear, especially in the lungs, the organ most often affected by this condition.

In addition to affecting the amount of protein that can work properly, alpha-1 antitrypsin deficiency can also cause abnormal protein buildup in the liver which then causes liver disorders.

The appearance of symptoms due to this condition depends on how severe the alpha-1 antitrypsin protein deficiency is experienced. Symptoms can appear in any age group, from infants, children, adolescents, to adults. However, symptoms are more often seen at the age of 20-50 years.

Some of the symptoms that can appear in adulthood are:

• Shortness of breath after light activity
• Inability to perform physical activities, such as exercising
• Wheezing or “squeaking” sound when breathing
• Chest feels tight

Other symptoms that may appear include:

• Weight loss
• Recurrent respiratory infections
• Tired easily
• Heart pounding while standing
• Yellow skin or eyes (jaundice)
• Swelling in the abdomen or legs
• Coughing or vomiting blood
• Easy bruising

The above symptoms will worsen if people with alpha-1 antitrypsin deficiency smoke, are exposed to secondhand smoke, or consume alcoholic beverages.

In certain cases, alpha-1 antitrypsin deficiency can also be characterized by the appearance of panniculitis, a skin disorder characterized by thickening of the skin. This condition can be accompanied by the appearance of lumps or patches on the skin that feel painful.

In infants with alpha-1 antitrypsin deficiency, some of the symptoms that can appear are:

• Baby's skin and eyes turn yellow
• Difficult to gain weight
• Stomach looks enlarged due to swelling of the liver
• Nosebleed
• Bleeding

When to go to the doctor

Immediately see a doctor if you or your baby experience any of the symptoms mentioned above, especially if you have a family history of alpha-1 antitrypsin deficiency. Early examination is needed to determine the exact cause of the complaints experienced.

Alpha-1 antitrypsin deficiency can also affect lung function and work. Therefore, check with your doctor if you often experience coughing, shortness of breath, or difficulty breathing.

As mentioned above, alpha-1 antitrypsin deficiency is a hereditary disease. If you have alpha-1 antitrypsin deficiency and are planning to become pregnant, check with your doctor to determine the risk of passing this disease on to your child in the future.

Alpha-1 Antitrypsin Deficiency Diagnosis

The doctor will ask questions about the complaints experienced. Next, the doctor will perform an examination to detect sounds such as a “squeaking” sound, increased respiratory rate, discoloration of the skin or eyes, and swelling of the liver.

To confirm the diagnosis, the doctor will perform further examinations which include:

• Blood test, to measure the level of alpha-1 antitrypsin protein in the blood
• Chest X-ray, to detect lung damage
• CT scan, to see the condition of the lungs and liver more clearly
• Spirometry test, to evaluate lung function
• DNA testing, to detect abnormal genes that can cause alpha-1 antitrypsin defisiensi deficiency
• Skin biopsy, to determine the cause of panniculitis that may occur due to alpha-1 antitrypsin deficiency

Alpha-1 Antitrypsin Deficiency Treatment

Treatment of alpha-1 antitrypsin deficiency aims to relieve symptoms, prevent disease progression, and avoid complications. The treatment method will be adjusted to the levels of alpha-1 antitrypsin protein in the body, as well as liver and lung function.

If the liver and lungs are still functioning normally, the doctor will advise the patient to undergo regular check-ups, and avoid smoking, exposure to pollution, and alcohol consumption.

Alpha-1 antitrypsin deficiency that has caused liver or lung disorders needs to be treated according to the patient's condition and severity. Some of the treatment steps that can be taken are:

• Giving bronchodilator drugs, to launch the respiratory tract in the lungs so that the patient can breathe more easily
• Administration of corticosteroid drugs, to reduce inflammation in the lungs
• Augmentation therapy, to increase levels of alpha-1 antitrypsin protein so that the lungs continue to function normally and prevent further damage
• Liver transplant, to replace a damaged liver with a liver from a donor

If alpha-1 antitrypsin deficiency also causes panniculitis, your doctor will prescribe antibiotics, such as tetracycline, dapsone, or other drugs, such as colchicine.

Complications of Alpha-1 Antitrypsin Deficiency

If left untreated, alpha-1 antitrypsin deficiency can increase the risk of the following diseases:

• Lung disease, such as chronic obstructive pulmonary disease (COPD), pulmonary fibrosis, or lung cancer
• Liver disease, such as hepatitis, liver cancer, cirrhosis, or liver failure
• Vasculitis or inflammation of the blood vessels
• Pancreatic disorders, such as pancreatitis

Prevention of Alpha-1 Antitrypsin Deficiency

Because it is caused by a gene mutation, alpha-1 antitrypsin deficiency is difficult to prevent. However, so that liver and lung damage does not get worse due to this condition, there are several efforts that can be done, namely:

• Exercise regularly
• Eat a nutritionally balanced diet
• Maintain optimal body weight
• Do not smoke or be exposed to secondhand smoke
• Do not consume alcoholic beverages
• Avoid exposure to air pollution, including dust or motor vehicle fumes
• Undergo influenza vaccination, pneumonia vaccination, and hepatitis vaccination

Genetic testing is also recommended for couples who are planning a pregnancy. This examination is carried out to find out how much risk a child may be exposed to genetic disorders that are inherited from their parents.

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