Alpha-1 antitrypsin (AAT) deficiency is a disease characterized by the liver not producing enough AAT, a protein that protects the lungs and the liver itself from inflammation caused by infections and substances, such as smoke. from tobacco, cause irritation.
This condition can lead to chronic obstructive pulmonary disease (COPD) and liver disease such as cirrhosis. Alpha-1 antitrypsin deficiency is transmitted through genetic inheritance and can result in serious lung and liver disease at different times in life. In its severe form it is potentially fatal. Smoking increases the chances of emphysema.
Causes of alpha-1 antitrypsin (AAT) deficiency
Low protein level
The cause of alpha-1 antitrypsin deficiency is congenital due to an abnormal variant of a gene contained on chromosome 14. Most common genetic deficiencies:
– MS, causes a very slight decrease (AAT. There is no risk of liver disease or emphysema.
– SS, produces a slight decrease in AAT. There is no risk of liver disease or emphysema.
– MZ, mild to moderate decrease in AAT. You have a slight risk of liver disease and/or a very slight risk of producing emphysema.
– ZS, moderate decrease with moderate risk of causing liver disease and/or emphysema.
– ZZ, severe deficiency with high risk of liver disease and/or emphysema.
AAT is a type of protein considered an inhibitor of protease, an enzyme that breaks the bonds of proteins. AAT deficiency indicates that there is not enough of this protein in the body due to a genetic problem. Patients with severe AAT deficiency will likely have emphysema, a harmful accumulation of air in body tissues and/or organs, before the age of 40.
Symptoms of alpha-1 antitrypsin (AAT) deficiency
Wide range of signs
This disease can present a wide range of different symptoms such as:
– Wheezing when breathing.
– Difficulty breathing (dyspnea).
– Chronic cough.
– Phlegm.
– Bronchitis.
– Colds.
– Jaundice.
– Nausea and vomiting.
– Involuntary weight loss.
– Swelling in various parts of the body such as abdomen, legs and feet.
– High levels of liver enzymes.
Diagnosis of alpha-1 antitrypsin (AAT) deficiency
Blood test
In all cases, the doctor uses a blood test to measure the amount of protein the patient has and to identify the phenotype, that is, what type of protein is in the blood. Sometimes a genetic study linked to the blood test is also ordered.
There are groups of people who should be tested to see if they have alpha-1 antitrypsin deficiency:
– Asthma sufferers.
– Patients with chronic obstructive pulmonary disease).
– People with bronchiectasis (dilation of the bronchi).
– Dyspnea.
– Patients with liver disease without known cause.
– Blood relatives of patients with AAT deficiency.
If someone in the family has this disease, it is necessary for their immediate relatives to undergo genetic testing.
To diagnose AAT-related diseases, chest x-rays, respiratory function tests, a chest CT scan, and abdominal ultrasound will also be performed.
Treatment and medication of alpha-1 antitrypsin (AAT) deficiency
Various strategies to combat the disease
The reality is that there is no treatment that can correct the genetic alteration of people who have alpha-1 antitrypsin deficiency. What can be done is to give the patient alpha-1 antitrypsin to somewhat correct the deficiency.
For patients with this condition, it is necessary to maintain regular medical check-ups and follow healthy lifestyle habits:
– Do not smoke because doing so implies a decrease in respiratory capacity.
– Try to avoid respiratory infections by avoiding leaving the house when the air quality is not good and keeping the windows closed.
– Avoid contact with dust by using a mask when shaking carpets, vacuuming, sweeping or dusting.
– Wash your hands frequently.
– Exercise moderately. If the patient notices excessive fatigue, he or she should consult with the doctor to establish appropriate exercise guidelines.
– Follow a balanced diet, do not smoke and limit alcohol consumption.
– Get vaccinated against flu and pneumonia.
Prevention of alpha-1 antirypsin (AAT) deficiency
Get tested for the disease
There is no way to correct the genetic alteration, so prevention is limited to trying to discover as soon as possible if you have the disease. To do this, it is advisable to undergo screening tests, especially if you belong to any of the risk groups.
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