Deficiencia de alfa-1 antitripsina

Diagnósticos

AATD is a rare disease that can be difficult to diagnose. Diagnosis often occurs late, often more than five years after lung disease symptoms start. A blood test can measure the AAT protein level in your blood. Your healthcare professional may recommend a blood test if you have:

• Symptoms of AATD.
• A lung disease such as COPD, especially if it started before age 55.
• A liver disease such as cirrhosis.
• Close family members, such as a parent or sibling, who have AATD.
• Close family members who have lung or liver disease.

Tests

Your healthcare professional might suggest other tests to check for possible complications of the disease if you or your child has a low level of AAT protein. Tests could include:

• Genetic test. A genetic test is a blood test that can find the exact changes in the SERPINA1 gene. A genetic counselor can explain your test results and what the gene variants mean. Genetic testing isn't for everyone. Before you decide to be tested, talk with a genetic counselor about the mental health impact the test results might have.
• Lung function tests. Lung function tests, such as spirometry, can tell how well your lungs are working. If you have COPD, you may have regular spirometry testing. Lung function tests also are called pulmonary tests.
• Imaging tests. Imaging tests, such as a CT scan of your lungs or an X-ray of your chest, can show lung damage from COPD. Your healthcare professional may want you to have a CT scan of your chest if you have emphysema. You also may have a CT scan if you are newly diagnosed with AATD and have lung disease symptoms.
• Liver tests. Blood tests and imaging tests, such as ultrasound, can tell how well your liver is working.

Tratamientos

There is no cure for AATD, but treatment can help you live a healthier life. You can manage your symptoms and lower your risk of complications. This can help you live a healthier life.

AATD treatment depends on the lung, liver, skin or blood vessel complication. AATD treatment doesn't depend on your genetic makeup.

Work with your healthcare professional to create a personalized plan.

Lung diseases

Your treatment plan is based on your symptoms and how severe they are.

AATD-specific treatment replaces missing AAT protein through infusions. Standard COPD therapy includes medicines, oxygen therapy and pulmonary rehabilitation. Surgery or a lung transplant may help if COPD symptoms no longer respond to treatment.

Treatment can help you manage symptoms, slow how fast the condition worsens, lower the risk of complications and improve your ability to lead an active life. Treatment options may include the following.

• IV infusions of the AAT protein. Some people can raise their AAT protein levels through weekly infusions of AAT from donors. Known as augmentation therapy, infusions of AAT into a vein may slow damage to the lungs caused by emphysema. This therapy is typically for people who have the lowest AAT levels. It has some side effects.
• Medicines. Medicines help you breathe better. Most medicines are given with an inhaler. This small hand-held device delivers the medicine straight to your lungs when you breathe in the fine mist or powder. Some medicines are used when needed, and others are used every day. The most common medicines used to treat COPD include:
  • Bronchodilators. These relax the muscles around the airways and can help clear mucus. Depending on how severe your COPD is, you may need a short-acting bronchodilator before activities, a long-acting bronchodilator that you use every day or both.
  • Inhaled corticosteroids. Also called steroids, these help reduce airway swelling. Inhaled steroids help prevent bouts when COPD symptoms get worse.
  • Antibiotics. These help treat a flare-up of symptoms caused by a respiratory infection such as influenza or pneumonia. Flare-ups also are called exacerbations.
• Oxygen therapy. Oxygen therapy can improve quality of life and extend life. If there isn't enough oxygen in your blood, supplemental oxygen can help. Oxygen enters your body through a tube that rests in your nostrils or from a face mask. These attach to an oxygen tank. Some people with COPD use oxygen only during activities or while sleeping. Others use oxygen all the time.
• Pulmonary rehabilitation. This program combines exercise training, breathing techniques and health education. All sessions are supervised by healthcare professionals. You work with a variety of specialists. Pulmonary rehabilitation allows you to participate more fully in everyday activities and improves your quality of life.
• Surgery. Surgery may be an option for some people if medicines don't effectively treat serious symptoms. Surgical options include:
  • Bullectomy. Large air spaces called bullae form in the lungs when the inner walls of the air sacs are destroyed. This leaves one large air sac instead of a group of many smaller ones. These bullae can become very large and cause breathing problems. In a bullectomy, the surgeon removes one or more bullae from the lungs.
  • Lung volume reduction surgery. In lung volume reduction surgery, the surgeon removes wedges of damaged lung tissue from the upper lungs. This creates extra space in the chest so the healthier lung tissue that remains can expand. The muscle that helps in breathing, called the diaphragm, can work better. In some people who have severe emphysema, this surgery can improve quality of life and help them live longer. Surgery also increases their ability to exercise.
  • Lung transplant. A lung transplant may be an option for some people who have severe or end-stage lung disease. Replacing a lung can make breathing easier and help you live longer. But it's major surgery that has significant risks, such as organ rejection. A lung transplant requires taking lifelong medicine that weakens the immune system.

Liver diseases

Standard treatment for liver disease depends on the cause and extent of liver damage. Treatment includes monitoring and medicines. A liver transplant may be considered for end-stage liver disease. The goals of treatment are to slow the progression of scar tissue in the liver and to prevent or treat symptoms and complications of cirrhosis. Treatment options may include:

• Monitoring. Your healthcare professional may schedule yearly tests to see how well your liver is working. Tests may include liver function tests, ultrasound and MRI. You may need tests more often if you have liver cancer and cirrhosis or if you have liver function tests that keep showing results outside the reference range.
• Liver transplant. Liver transplant may be an option for some people who have end-stage liver disease. Replacing a liver can help you live longer. But it's major surgery that has significant risks, such as organ rejection. A liver transplant requires taking lifelong medicine that weakens the immune system.
• Experimental medicine. Researchers are working on therapies that will specifically target liver cells, helping to slow or even reverse the fibrosis that leads to cirrhosis. Fazirsiran is an experimental medicine that targets the changed gene. It has shown early promise by reducing the amount of misshapen AAT protein that collects in the liver. More clinical trials are needed to confirm how well fazirsiran works to reduce fibrosis.

IV infusions of the AAT protein don't help improve liver disease. For this reason, infusions of the AAT protein aren't recommended.

Skin disease

Your treatment plan for panniculitis is based on your symptoms and how severe they are. If left untreated, panniculitis can lead to death. Treatment options may include:

• Medicines. Dapsone is a tablet taken for several weeks to treat skin infections. Dapsone has known side effects. Dapsone is often the first medicine prescribed for panniculitis. Doxycycline is a tetracycline antibiotic that may be prescribed with dapsone.
• IV infusions of the AAT protein. Boosting AAT levels through weekly infusions of donated AAT into a vein may help some people when dapsone isn't effective. Dosing levels are typically higher than given to treat people with emphysema. There are some side effects. AAT protein infusions are considered off-label to treat panniculitis. Although some healthcare professionals believe infusions are helpful, insurance providers may not pay for treatment.

Blood vessel

Your treatment plan for vasculitis is based on your symptoms and how severe they are. Treatment options may include medicine or surgery.

• A corticosteroid medicine is the most common type of medicine prescribed to control the inflammation of vasculitis. Corticosteroids can have bad side effects. The longer you take them, the worse the side effects may be. Your healthcare professional may add other medicines to corticosteroids to control the inflammation. That way, you can lower the dose of corticosteroids more quickly.
• Sometimes, vasculitis causes a balloonlike bulge in the wall of a blood vessel. This is called an aneurysm. This bulge may need treatment with surgery to lower the risk of it breaking.

Modo de vida y remedios caseros

Your healthcare team works with you to identify the lifestyle changes that help you most. The following ways might help you avoid complications or slow damage to your lungs and liver:

• Quit smoking. Stopping smoking can keep COPD from getting worse and help you breathe easier. For people with severe AATD, smoking may shorten how long they live — by as much as 10 years. Talk with your healthcare professional about stop-smoking programs, nicotine replacement products and medicines that might help.
• Avoid smoke and poor-quality air. Avoid places where other people smoke. Secondhand smoke may add to lung damage. Dust, fumes and air pollution also may hurt your lungs and cause COPD flare-ups. Check daily air quality forecasts before you go outdoors. Stay indoors when there's a lot of pollution, smoke or dust in the air.
• Avoid alcohol. Talk with your healthcare professional about whether you need to stop using alcohol. Do not drink alcohol if you have a liver disease. Alcohol can make liver disease worse. When comparing people with liver transplants, those who don't drink alcohol live longer than those who do drink alcohol.
• Eat healthy foods. Eating nutrient-rich foods helps you feel better and increases your strength. These foods also can help you maintain a healthy weight. Nutrient-rich foods include vegetables, fruits, nuts, lean proteins, whole grains and dairy. A healthcare professional may recommend nutritional supplements, especially if you are underweight.
• Get regular physical activity. Regular daily activities and exercise can strengthen the muscles you use to breathe. Exercise that blends movement with breathing, such as tai chi or yoga, may help your lungs work better. This makes it easier to stay active. Regular activity also increases your appetite and improves your mood. Exercise also may help you maintain a healthy weight. Talk with your healthcare professional about which exercises are best for you.
• Stay up to date with vaccines. Vaccines help protect your lungs and liver from serious infections. Get regular COVID-19, flu and pneumonia shots, and hepatitis A and hepatitis B vaccines. Ask your healthcare professional if you need other vaccines, such as respiratory syncytial virus, tetanus, measles and shingles.
• Review your medicines. Ask a healthcare professional or pharmacist to review the medicines you take. Check if you take any medicines that may cause liver damage. Include all medicines you can buy with a prescription and without a prescription.

Estrategias de afrontamiento y apoyo

Living with AATD can be a challenge. If you or your child has AATD, you may have strong emotions such as depression, anxiety or fear. These tips may help.

• Get professional help. If you or your child is depressed or anxious, it may help to meet with a mental health professional. You can talk about feelings and ways to cope. The mental health professional may suggest medicines or other treatments too.
• Find support. Talking openly about how you feel can help. It also may help to talk with others who have the same condition. That might mean joining a support group.
• Spend time with friends and family. Having their support can help you manage stress and lessen anxiety. Ask your friends or family for help when you need it.

Preparación para la consulta

Here's some information to help you get ready for your appointment.

What you can do

When you make the appointment, ask if there's anything you need to do before you arrive, such as fasting before having a certain test.

Before your appointment, make a list of:

• Symptoms you're experiencing and when they started. Include anything that makes your symptoms worse or better.
• All medicines, vitamins, herbs and supplements you take. Include the doses.
• Family history, such as whether anyone in your family has a lung or liver disease.
• Treatment you've had for any lung or liver disease, if any. Include what the treatment was and if it helped.
• Any other medical conditions you have and their treatments.
• Your smoking history, including if you smoke or have ever smoked.
• Questions to ask your healthcare professional.

Take a family member or friend along, if possible, to help you remember what your healthcare team tells you.

Questions to ask may include:

• What's likely causing my symptoms?
• What tests do I need?
• Is my condition likely to go away or last?
• What treatment do you suggest?
• I have these other health conditions. How can I best manage them together?
• Are there restrictions I need to follow?
• Should I see a specialist?
• Are there brochures or other printed material I can have? What websites do you suggest?

Be sure to ask all the questions you have.

What to expect from your doctor

Your healthcare professional is likely to ask you questions, such as:

• Have your symptoms been ongoing or do they come and go?
• How bad are your symptoms?
• What, if anything, seems to make your symptoms better?
• What, if anything, seems to make your symptoms worse?
• Do you now or have you ever smoked cigarettes? If you smoke, would you like help in quitting?
• Do you find it hard to catch your breath, even with little or no activity?
• Do you have a family history of lung or liver disease?
• Have you ever had jaundice?
• How often do you drink alcohol?

Be ready to answer questions so that you have time to talk about what's most important to you.