What health problems does alpha 1 antitrypsin deficiency cause?

This is an automatically translated article.

Alpha-1 antitrypsin is a protein that protects the human liver from attack by an enzyme called elastase. Whether due to genetic or acquired causes, once the body has a deficiency of Alpha-1 antitrypsin, it will give the proteolytic enzymes the opportunity to cause lung tissue damage or liver damage.

1. What is Alpha 1 Antitrypsin?

Alpha-1 antitrypsin (A1AT) is a protein produced by liver cells, is responsible for moving from the liver into the blood and can go to the lungs to protect the lungs from damage by enzymes (enzymes). other.
Alpha 1 antitrypsin deficiency is an inherited disease that can damage the liver, indicating the body's inability to produce enough alpha-1 antitrypsin (a very important protein that helps protect the liver from damage) ). In fact, not all patients with alpha 1 antitrypsin deficiency also have liver disease, however, it is important to regularly monitor the liver to detect and treat any damage early. chance of complications.

Alpha 1 antitrypsin deficiency disease can be inherited from parents to children through genes and can damage the lungs and liver. Patients will feel short of breath, cough and wheeze when suffering from this disease. The longer it is left, the more severe the disease and the more life-threatening. Up to the present time, alpha 1 antitrypsin deficiency is a disease that has no specific treatment, current treatments only help slow down the disease progression and reduce pain and discomfort for patients.
Alpha 1 antitrypsin deficiency can be caused by a defect on chromosome 14 that produces the abnormal enzyme A1AT. In some patients, the abnormal A1AT enzyme will become blocked in the liver and damage liver cells, creating scar tissue in the liver.

2. Causes of alpha 1 antitrypsin deficiency disease

According to statistics, alpha 1 antitrypsin deficiency is one of the most common genetic diseases in developed countries, with a prevalence of 1/3,000-5,000 and 1 in 30 people carrying the gene. cause A1AT disease.
The main cause of alpha 1 antitrypsin deficiency is thought to be a mutated gene responsible for the production of alpha-1 antitrypsin proteins. Normally, alpha-1 antitrypsin is responsible for protecting the liver from attack by an enzyme called elastase (produced by the immune system and can attack the liver when it's triggered by cigarette smoke, dirt, and dust. , toxic chemicals...). When the body doesn't have enough alpha-1 antitrypsin, the elastases build up and lead to liver and lung damage.

3. Alpha 1 antitrypsin deficiency symptoms

Alpha 1 antitrypsin deficiency is a disease with many genetic variants, so patients can experience many different symptoms or a few have no specific symptoms. Patients with alpha 1 antitrypsin deficiency can often present with symptoms in the lungs, liver, or both.
3.1 Symptoms of alpha 1 antitrypsin deficiency in the lungs Usually begins when the patient is in his 40s, some cases have earlier onset, the manifestations include:
Shortness of breath: The patient initially only feels cold. feeling of dyspnea on exertion, later on, the manifestation of dyspnea becomes more severe and some patients may have severe dyspnea; Cough: This is a very common manifestation, possibly accompanied by viscous sputum; Wheezing; Respiratory infections: Common in patients with comorbid emphysema. 3.2 Symptoms of alpha 1 antitrypsin deficiency in the liver For newborns with alpha 1 antitrypsin deficiency, jaundice and hepatitis are rarely present after birth, because there is a large amount of A1AT enzyme that accumulates in the baby's liver during pregnancy. fetus. In many cases, the child will grow up without liver problems, until puberty the child may have only mild liver abnormalities and in rare cases the infant or child will may show hepatocellular failure.
In adults, some patients with alpha 1 antitrypsin deficiency may have a syndrome of mild hepatocellular failure or severe hepatocellular failure, leading to cirrhosis or chronic liver disease.

4. Diagnosis and treatment of alpha 1 antitrypsin deficiency disease

To accurately diagnose alpha 1 antitrypsin deficiency, your doctor will order a series of blood tests to see if alpha-1 antitrypsin and elevated liver enzymes are low. In addition, the doctor may ask the patient to perform an ultrasound or X-ray test, if the test results are problematic, the patient may need to perform a liver biopsy to check for liver damage. are not.

When it is determined that the patient has alpha 1 antitrypsin deficiency, start treatment. Until now, medicine has not found a cure for alpha 1 antitrypsin deficiency, but treatment is only to limit the progression of the disease. The patient may need to replace the missing alpha-1 antitrypsin. Proteins to make up for the shortfall will be given by intravenous infusion on a weekly basis.
In case the patient has emphysema, the treatment is similar to the treatment of chronic obstructive pulmonary disease.
Patients can be treated with inhaled drugs (powdered drugs that are put into the body when the patient breathes in), some drugs that can be used include: bronchodilators, steroids, steroids tablets, antibiotics, theophylline tablets...
In addition, surgery may be indicated in rare cases such as COPD patients may have large air sacs (cocoons) in the lungs to help remove them. a large, solitary cyst, which improves symptoms; or lung transplant surgery.
Along with the treatment plan for alpha 1 antitrypsin deficiency disease of the doctor, the patient also needs to stop smoking (if addicted to smoking), stop drinking alcohol, get vaccinated every year.
Patients with Alpha 1 antitrypsin deficiency need to follow a reasonable work and rest regime, especially should avoid working in environments prone to pollution.