antitrypsin

Alpha-1 antitrypsin deficiency (AAT deficiency, or AATD) is an inherited condition that raises your risk for lung and liver disease. If you have this condition, your body doesn't make enough alpha-1 antitrypsin (AAT).

AAT is made by your liver. It helps protect your lungs from inflammation and irritating substances you might breathe in, such as smoke. If your liver doesn't make enough AAT, your lungs may be more easily damaged from smoking, pollution, or dust from the environment. This can lead to a serious lung condition called chronic obstructive pulmonary disease (COPD). AAT deficiency may also cause a liver disease called cirrhosis. This is more common in children who have AAT deficiency.

AAT deficiency is a genetic disorder. That means it's caused by changes in your genes, which may also be called gene variants or mutations.

Your genes carry information that controls what you look like and how your body works. AAT deficiency is caused by changes in the SERPINA1 gene, which carries instructions for making the AAT protein. These gene changes are inherited from your parents, so AAT deficiency tends to run in families:

• If you have two mutated copies of the gene, it means you have a condition called AAT deficiency. People with this disorder have a higher risk of getting lung disease or liver damage before the age of 45.
• If you have one mutated copy of the gene, you are a carrier of AAT deficiency. In these cases, this means you are at slightly higher risk of developing lung disease, especially if you have other risk factors, such as being a smoker. You could still pass the mutated gene on to your children.

There are a few gene changes that cause AAT deficiency. These gene changes can:

• Decrease the amount of AAT protein your liver makes.
• Prevent your liver from making any AAT.
• Affect the shape of the AAT protein so that it can't move out of your liver to protect your lungs. Over time, AAT builds up in your liver and causes damage.

Some people who have AAT deficiency do not have any symptoms. For those who do, symptoms usually appear in people between 20 and 50 years old. These symptoms may include:

• Wheezing
• Shortness of breath, especially after exercise
• Chronic cough with phlegm (mucus)
• Repeated respiratory infections such as colds and the flu
• Chest pain
• Fatigue
• Faster-than-normal heartbeat when you stand up
• Vision problems
• Losing weight without trying

Some people who have AAT deficiency may have liver damage. Signs of liver damage include jaundice (a condition that causes your skin and eyes to turn yellow) and swelling in your legs.

Rarely, AAT deficiency can cause skin problems, such as painful lumps or patches.

Your health care provider may test you for AAT deficiency if you have:

• Symptoms of AAT deficiency
• A condition that could be related to AAT deficiency
• Relatives who have AAT deficiency
• Relatives who have a lung or liver disease that could be related to AAT deficiency

AAT deficiency in babies often affects the liver. Your baby may need AAT testing if he or she has signs of liver disease such as jaundice or abnormal liver enzyme tests.

A blood test can check the level of AAT protein in your blood. If the level is lower than normal, it is likely that you have AAT deficiency.

A genetic test is the most certain way to check for AAT deficiency and should be done to confirm the results of the blood test. There are two types of genetic tests:

• A genotype test looks for the more common types of gene changes that can cause AAT deficiency.
• A phenotype test checks for changes in the AAT protein that change how it would normally work.

If your lungs are affected, you may also have lung function tests to see how well your lungs are working.

There is no cure for AAT deficiency, but there are treatments to help with the symptoms and slow the lung damage it causes. Treatment options may include:

• Inhaled medicines to help you breathe better.
• Pulmonary rehabilitation.
• Oxygen therapy.
• Augmentation therapy, which is a lifelong treatment. It raises the levels of the AAT protein in your lungs, using ATT protein taken from the blood of donors. It helps slow down lung damage. It cannot prevent liver damage.
• Lung surgery or a lung transplant, if your lungs are severely damaged.
• Liver transplant, if your liver is severely damaged.

To help prevent or delay lung damage, it is important to quit smoking (if you smoke) and avoid secondhand smoke, dust, and air pollution. Ask your provider If you need to stop drinking alcohol.

Emphysema is a type of COPD (chronic obstructive pulmonary disease). COPD is a group of lung diseases that make it hard to breathe and get worse over time. The other main type of COPD is chronic bronchitis. Most people with COPD have both emphysema and chronic bronchitis, but how severe each type is can be different from person to person.

Emphysema affects the air sacs in your lungs. Normally, these sacs are elastic or stretchy. When you breathe in, each air sac fills up with air, like a small balloon. When you breathe out, the air sacs deflate, and the air goes out.

In emphysema, the walls between many of the air sacs in the lungs are damaged. This causes the air sacs to lose their shape and become floppy. The damage also can destroy the walls of the air sacs, leading to fewer and larger air sacs instead of many tiny ones. This makes it harder for your lungs to move oxygen in and carbon dioxide out of your body.

The cause of emphysema is usually long-term exposure to irritants that damage your lungs and the airways. In the United States, cigarette smoke is the main cause. Pipe, cigar, and other types of tobacco smoke can also cause emphysema, especially if you inhale them.

Exposure to other inhaled irritants can contribute to emphysema. These include secondhand smoke, air pollution, and chemical fumes or dusts from the environment or workplace.

Rarely, a genetic condition called alpha-1 antitrypsin deficiency can play a role in causing emphysema.

The risk factors for emphysema include:

• Smoking. This the main risk factor. Up to 75% of people who have emphysema smoke or used to smoke.
• Long-term exposure to other lung irritants, such as secondhand smoke, air pollution, and chemical fumes and dusts from the environment or workplace.
• Age. Most people who have emphysema are at least 40 years old when their symptoms begin.
• Genetics. This includes alpha-1 antitrypsin deficiency, which is a genetic condition. Also, smokers who get emphysema are more likely to get it if they have a family history of COPD.

At first, you may have no symptoms or only mild symptoms. As the disease gets worse, your symptoms usually become more severe. They can include:

• Frequent coughing or wheezing
• A cough that produces a lot mucus
• Shortness of breath, especially with physical activity
• A whistling or squeaky sound when you breathe
• Tightness in your chest

Some people with emphysema get frequent respiratory infections such as colds and the flu. In severe cases, emphysema can cause weight loss, weakness in your lower muscles, and swelling in your ankles, feet, or legs.

Your health care provider may use many tools to make a diagnosis:

• A medical history, which includes asking about your symptoms
• A family history
• Other tests tests, such as lung function tests, a chest x-ray or CT scan, and blood tests

There is no cure for emphysema. However, treatments can help with symptoms, slow the progress of the disease, and improve your ability to stay active. There are also treatments to prevent or treat complications of the disease. Treatments include:

• Lifestyle changes, such as
  • Quitting smoking if you are a smoker. This is the most important step you can take to treat emphysema.
  • Avoiding secondhand smoke and places where you might breathe in other lung irritants
  • Ask your health care provider for an eating plan that will meet your nutritional needs. Also ask about how much physical activity you can do. Physical activity can strengthen the muscles that help you breathe and improve your overall wellness.
• Medicines, such as
  • Bronchodilators, which relax the muscles around your airways. This helps open your airways and makes breathing easier. Most bronchodilators are taken through an inhaler. In more severe cases, the inhaler may also contain steroids to reduce inflammation.
  • Vaccines for the flu and pneumococcal pneumonia, since people with emphysema are at higher risk for serious problems from these diseases
  • Antibiotics if you get a bacterial or viral lung infection
• Oxygen therapy, if you have severe emphysema and low levels of oxygen in your blood. Oxygen therapy can help you breathe better. You may need extra oxygen all the time or only at certain times.
• Pulmonary rehabilitation, which is a program that helps improve the well-being of people who have chronic breathing problems. It may include
  • An exercise program
  • Disease management training
  • Nutritional counseling
  • Psychological counseling
• Surgery, usually as a last resort for people who have severe symptoms that have not gotten better with medicines. There are surgeries to
  • Remove damaged lung tissue
  • Remove large air spaces (bullae) that can form when air sacs are destroyed. The bullae can interfere with breathing.
  • Do a lung transplant. This is might be an option if you have very severe emphysema.

If you have emphysema, it's important to know when and where to get help for your symptoms. You should get emergency care if you have severe symptoms, such as trouble catching your breath or talking. Call your health care provider if your symptoms are getting worse or if you have signs of an infection, such as a fever.

Since smoking causes most cases of emphysema, the best way to prevent it is to not smoke. It's also important to try to avoid lung irritants such as secondhand smoke, air pollution, chemical fumes, and dusts.

NIH: National Heart, Lung, and Blood Institute

COPD (chronic obstructive pulmonary disease) is a group of lung diseases that make it hard to breathe and get worse over time.

Normally, the airways and air sacs in your lungs are elastic or stretchy. When you breathe in, the airways bring air to the air sacs. The air sacs fill up with air, like a small balloon. When you breathe out, the air sacs deflate, and the air goes out. If you have COPD, less air flows in and out of your airways because of one or more problems:

• The airways and air sacs in your lungs become less elastic
• The walls between many of the air sacs are destroyed
• The walls of the airways become thick and inflamed
• The airways make more mucus than usual and can become clogged

COPD includes two main types:

• Emphysema affects the air sacs in your lungs, as well as the walls between them. They become damaged and are less elastic.
• Chronic bronchitis, in which the lining of your airways is constantly irritated and inflamed. This causes the lining to swell and make mucus.

Most people with COPD have both emphysema and chronic bronchitis, but how severe each type is can be different from person to person.

The cause of COPD is usually long-term exposure to irritants that damage your lungs and airways. In the United States, cigarette smoke is the main cause. Pipe, cigar, and other types of tobacco smoke can also cause COPD, especially if you inhale them.

Exposure to other inhaled irritants can contribute to COPD. These include secondhand smoke, air pollution, and chemical fumes or dusts from the environment or workplace.

Rarely, a genetic condition called alpha-1 antitrypsin deficiency can play a role in causing COPD.

The risk factors for COPD include:

• Smoking. This the main risk factor. Up to 75% of people who have COPD smoke or used to smoke.
• Long-term exposure to other lung irritants, such as secondhand smoke, air pollution, and chemical fumes and dusts from the environment or workplace
• Age. Most people who have COPD are at least 40 years old when their symptoms begin.
• Genetics. This includes alpha-1 antitrypsin deficiency, which is a genetic condition. Also, smokers who get COPD are more likely to get it if they have a family history of COPD.
• Asthma. People who have asthma have more risk of developing COPD than people who don't have asthma. But most people with asthma will not get COPD.

At first, you may have no symptoms or only mild symptoms. As the disease gets worse, your symptoms usually become more severe. They can include:

• Frequent coughing or a cough that produces a lot mucus
• Wheezing
• A whistling or squeaky sound when you breathe
• Shortness of breath, especially with physical activity
• Tightness in your chest

Some people with COPD get frequent respiratory infections such as colds and the flu. In severe cases, COPD can cause weight loss, weakness in your lower muscles, and swelling in your ankles, feet, or legs.

Your health care provider may use many tools to make a diagnosis:

• A medical history, which includes asking about your symptoms
• A family history
• Various tests, such as lung function tests, a chest x-ray or CT scan, and blood tests

Your doctor will diagnose COPD based on your signs and symptoms, your medical and family histories, and test results.

There is no cure for COPD. However, treatments can help with symptoms, slow the progress of the disease, and improve your ability to stay active. There are also treatments to prevent or treat complications of the disease. Treatments include:

• Lifestyle changes, such as
  • Quitting smoking if you are a smoker. This is the most important step you can take to treat COPD.
  • Avoiding secondhand smoke and places where you might breathe in other lung irritants
  • Ask your health care provider for an eating plan that will meet your nutritional needs. Also ask about how much physical activity you can do. Physical activity can strengthen the muscles that help you breathe and improve your overall wellness.
• Medicines, such as
  • Bronchodilators, which relax the muscles around your airways. This helps open your airways and makes breathing easier. Most bronchodilators are taken through an inhaler. In more severe cases, the inhaler may also contain steroids to reduce inflammation.
  • Vaccines for the flu and pneumococcal pneumonia, since people with COPD are at higher risk for serious problems from these diseases
  • Antibiotics if you get a bacterial or viral lung infection
• Oxygen therapy, if you have severe COPD and low levels of oxygen in your blood. Oxygen therapy can help you breathe better. You may need extra oxygen all the time or only at certain times.
• Pulmonary rehabilitation, which is a program that helps improve the well-being of people who have chronic breathing problems. It may include
  • An exercise program
  • Disease management training
  • Nutritional counseling
  • Psychological counseling
• Surgery, usually as a last resort for people who have severe symptoms that have not gotten better with medicines:
  • For COPD that is mainly related to emphysema, there are surgeries that
    • Remove damaged lung tissue
    • Remove large air spaces (bullae) that can form when air sacs are destroyed. The bullae can interfere with breathing.
  • For severe COPD, some people may need lung transplant

If you have COPD, it's important to know when and where to get help for your symptoms. You should get emergency care if you have severe symptoms, such as trouble catching your breath or talking. Call your health care provider if your symptoms are getting worse or if you have signs of an infection, such as a fever.

Since smoking causes most cases of COPD, the best way to prevent it is to not smoke. It's also important to try to avoid lung irritants such as secondhand smoke, air pollution, chemical fumes, and dusts.

NIH: National Heart, Lung, and Blood Institute

Chronic bronchitis is a type of COPD (chronic obstructive pulmonary disease). COPD is a group of lung diseases that make it hard to breathe and get worse over time. The other main type of COPD is emphysema. Most people with COPD have both emphysema and chronic bronchitis, but how severe each type is can be different from person to person.

Chronic bronchitis is inflammation (swelling) and irritation of the bronchial tubes. These tubes are the airways that carry air to and from the air sacs in your lungs. The irritation of the tubes causes mucus to build up. This mucus and the swelling of the tubes make it harder for your lungs to move oxygen in and carbon dioxide out of your body.

The cause of chronic bronchitis is usually long-term exposure to irritants that damage your lungs and airways. In the United States, cigarette smoke is the main cause. Pipe, cigar, and other types of tobacco smoke can also cause chronic bronchitis, especially if you inhale them.

Exposure to other inhaled irritants can contribute to chronic bronchitis. These include secondhand smoke, air pollution, and chemical fumes or dusts from the environment or workplace.

Rarely, a genetic condition called alpha-1 antitrypsin deficiency can play a role in causing chronic bronchitis.

The risk factors for chronic bronchitis include:

• Smoking. This the main risk factor. Up to 75% of people who have chronic bronchitis smoke or used to smoke.
• Long-term exposure to other lung irritants, such as secondhand smoke, air pollution, and chemical fumes and dusts from the environment or workplace.
• Age. Most people who have chronic bronchitis are at least 40 years old when their symptoms begin.
• Genetics. This includes alpha-1 antitrypsin deficiency, which is a genetic condition. Also, smokers who get chronic bronchitis are more likely to get it if they have a family history of COPD.

At first, you may have no symptoms or only mild symptoms. As the disease gets worse, your symptoms usually become more severe. They can include:

• Frequent coughing or a cough that produces a lot mucus
• Wheezing
• A whistling or squeaky sound when you breathe
• Shortness of breath, especially with physical activity
• Tightness in your chest

Some people with chronic bronchitis get frequent respiratory infections such as colds and the flu. In severe cases, chronic bronchitis can cause weight loss, weakness in your lower muscles, and swelling in your ankles, feet, or legs.

Your health care provider may use many tools to make a diagnosis:

• A medical history, which includes asking about your symptoms
• A family history
• Various tests, such as lung function tests, a chest x-ray or CT scan, and blood tests

There is no cure for chronic bronchitis. However, treatments can help with symptoms, slow the progress of the disease, and improve your ability to stay active. There are also treatments to prevent or treat complications of the disease. Treatments include:

• Lifestyle changes, such as
  • Quitting smoking if you are a smoker. This is the most important step you can take to treat chronic bronchitis.
  • Avoiding secondhand smoke and places where you might breathe in other lung irritants
  • Ask your health care provider for an eating plan that will meet your nutritional needs. Also ask about how much physical activity you can do. Physical activity can strengthen the muscles that help you breathe and improve your overall wellness.
• Medicines, such as
  • Bronchodilators, which relax the muscles around your airways. This helps open your airways and makes breathing easier. Most bronchodilators are taken through an inhaler. In more severe cases, the inhaler may also contain steroids to reduce inflammation.
  • Vaccines for the flu and pneumococcal pneumonia, since people with chronic bronchitis are at higher risk for serious problems from these diseases.
  • Antibiotics if you get a bacterial or viral lung infection
• Oxygen therapy, if you have severe chronic bronchitis and low levels of oxygen in your blood. Oxygen therapy can help you breathe better. You may need extra oxygen all the time or only at certain times.
• Pulmonary rehabilitation, which is a program that helps improve the well-being of people who have chronic breathing problems. It may include
• An exercise program
• Disease management training
• Nutritional counseling
• Psychological counseling
• A lung transplant, as a last resort for people who have severe symptoms that have not gotten better with medicines

If you have chronic bronchitis, it's important to know when and where to get help for your symptoms. You should get emergency care if you have severe symptoms, such as trouble catching your breath or talking. Call your health care provider if your symptoms are getting worse or if you have signs of an infection, such as a fever.

Since smoking causes most cases of chronic bronchitis, the best way to prevent it is to not smoke. It's also important to try to avoid lung irritants such as secondhand smoke, air pollution, chemical fumes, and dusts.

NIH: National Heart, Lung, and Blood Institute

Cirrhosis is scarring of the liver. Scar tissue forms because of injury or long-term disease. Scar tissue cannot do what healthy liver tissue does - make protein, help fight infections, clean the blood, help digest food and store energy. Cirrhosis can lead to :

• Easy bruising or bleeding, or nosebleeds
• Swelling of the abdomen or legs
• Extra sensitivity to medicines
• High blood pressure in the vein entering the liver
• Enlarged veins called varices in the esophagus and stomach. Varices can bleed suddenly.
• Kidney failure
• Jaundice
• Severe itching
• Gallstones

A small number of people with cirrhosis get liver cancer.

Your doctor will diagnose cirrhosis with blood tests, imaging tests, or a biopsy.

Cirrhosis has many causes. In the United States, the most common causes are chronic alcoholism and hepatitis. Nothing will make the scar tissue disappear, but treating the cause can keep it from getting worse. If too much scar tissue forms, you may need to consider a liver transplant.

NIH: National Institute of Diabetes and Digestive and Kidney Diseases

A lung transplant removes a person's diseased lung and replaces it with a healthy one. The healthy lung comes from a donor who has died. Some people get one lung during a transplant. Other people get two.

Lung transplants are used for people who are likely to die from lung disease within 1 to 2 years. Their conditions are so severe that other treatments, such as medicines or breathing devices, no longer work. Lung transplants most often are used to treat people who have severe:

• COPD
• Cystic fibrosis
• Idiopathic pulmonary fibrosis
• Alpha-1 antitrypsin deficiency
• Pulmonary hypertension

Complications of lung transplantation include rejection of the transplanted lung and infection.

NIH: National Heart, Lung, and Blood Institute