Have you thought about what the causes of Alpha-1 antitrypsin deficiency are? If you have, and you are still yet to find an answer, this guide is perfect for you. We would be discussing in this guide the causes of Alpha-1 antitrypsin deficiency. If you would like to know, then you should read through this guide.
What is alpha-1 antitrypsin deficiency?
Alpha-1 antitrypsin (AAT) deficiency is a condition that raises your risk for lung and other diseases.
alpha-1 antitrypsin deficiency is a protein made in your liver to help protect the lungs. If your body does not make enough AAT, your lungs are more easily damaged from smoking, pollution, or dust from the environment. This can lead to COPD. AAT deficiency may also cause a liver disease called cirrhosis. This is more common in children who have AAT deficiency.
AAT deficiency ruin families. Many people do not know that they have it, but an early diagnosis can help prevent COPD and other serious lung diseases. Talk to your doctor if you have a family member who has AAT deficiency or who was diagnosed with COPD in their 40s or 50s. Also, talk to your doctor if you have symptoms such as an ongoing cough, shortness of breath, wheezing, or liver disease.
Another important step to prevent or delay COPD is to quit smoking. If you do not smoke, do not start.
How do you get it?
Because AAT deficiency is an inherited disease, meaning it ruin families, it cannot be prevented. It can happen to anyone of any race or ethnicity. However, it is more common in white people of Northern-European backgrounds.
Everyone inherits two AAT genes, one gene from each parent. If you inherit a mutated or changed gene from each parent, you will have AAT deficiency.
If you inherit a mutated AAT gene from one parent and a normal AAT gene from the other parent, you are a carrier for the condition. You might have lower levels of AAT protein in your blood, but you most likely will not have an AAT deficiency. You might also pass the mutated gene to your children.
How does Alpha-1 deficiency affect my lungs and liver?
Alpha-1 antitrypsin (AAT) is a protein that forms in your liver and moves through your bloodstream to your lungs. It’s the “off switch” for an enzyme called neutrophil elastase. Neutrophil elastase is important for fighting infectioin your lungs, but it can also destroy your healthy lung tissue. After elastase has had time to help fight infection, AAT shuts it off (inhibits) so it won’t damage your lungs.
If a gene mutation causes low levels of AAT or creates incorrectly formed AAT, you won’t have enough in your lungs to stop elastase, which will start breaking down the protein elastin in your lungs. Elastin gives strength to the tiny air sacs of your lungs (alveoli) and allows them to stretch and contract, like a rubber band. Without it, your alveoli lose their shape and become floppy. This makes it so you can’t breathe or get oxygen properly. This is a condition called emphysema.
Gene mutatiothat change the shape of AAT keep it from moving out of your liver. It builds up there and can cause scarring. Since it can’t get out of your liver, it’s not able to move to your bloodstream and your lungs.
How Frequently is Alpha-1 deficiency contacted?
Alpha-1 antitrypsin deficiency occurs worldwide, but its prevalence varies by population. This disorder affects about 1 in 1,500 to 3,500 individuals with European ancestry. It is uncommon in people of Asian descent. Many individuals with alpha-1 antitrypsin deficiency are likely undiagnosed, particularly people with a lung condition called chronic obstructive pulmonary disease (COPD). COPD can be caused by alpha-1 antitrypsin deficiency; however, alpha-1 antitrypsin deficiency is often never diagnosed. Some people with alpha-1 antitrypsin deficiency are misdiagnosed with asthma.
Symptoms of AAT Deficiency
You might not know you have the disease until you’re an adult. Most people get it between the ages of 20 and 40. You may feel short of breath, especially when you try to exercise. You also could start to wheeze or have a whistling sound when you breathe.
You may also get a lot of lung infections. Other warning siginclude:
- Feeling tired
- Your heart beats fast when you stand up
- Weight loss
If AAT deficiency causes problems with your liver, you could have symptoms like:
- Yellowish skin or eyes
- Swollen belly or legs
- Coughing up blood
A newborn baby might have:
- Jaundice, a yellow tint to the skin or eyes
- Yellow urine
- Trouble gaining weight
- An enlarged liver
- Bleeding from the nose or umbilical stump
It’s rare, but some people also get a skin disease called panniculitis. It causes hardening of the skin along with painful lumps or patches.
How AAT Deficiency Is Diagnosed
If you are a young person with COPD or liver disease, your doctor may decide to give you a simple blood test to check for AAT deficiency. In most individuals with AAT deficiency, the warning sigof lung disease start to appear between the age of 30 and 40 years. Smokers with AAT deficiency tend to develop the disease 10 or more years earlier than non-smokers.
Global Initiative for Chronic Obstructive Lung Disease (GOLD) Guidelines recommend that all individuals with COPD, regardless of age or ethnicity, should be tested for AAT deficiency. If you have a close family member—such as a parent or sibling—with AAT deficiency you should also be screened. Your doctor may order a screening blood test to check the level of alpha-1 antitrypsin in your body.
If your levels are low, genetic testing with another blood test may be used to identify any abnormal genes. You will also likely have a lung function or spirometry test, a chest X-ray or CT scan of your lungs, blood testing of liver function, and in some cases an ultrasound of the liver. If you have low levels of AAT but normal liver and lung function tests, you may not need treatment; however, you will be monitored with repeat testing over time.
How is Alpha-1 treated?
For those with lung conditiofrom Alpha-1, your provider can treat you with COPD medicatioand therapies, like bronchodilators and pulmonary rehabilitation. If you have emphysema due to very low levels of Alpha-1 in your blood, they may recommend augmentation therapy. Augmentation therapy delivers normal Alpha-1, collected and purified from blood donors, through an IV. Augmentation therapy can slow the progression of emphysema.
If Alpha-1 affects your liver, your provider may be able to treat some of the symptoms, but only a liver transplant can cure Alpha-1 by restoring normal AAT production.
Not smoking or drinking reduces your risk of lung and liver damage from Alpha-1. It’s recommended that you get vaccinated to help prevent viral hepatitis and pneumonia.
What medications/treatments are used?
Depending on where Alpha-1 affects you, treatment optiomay include:
- Augmentation therapy. Your provider can increase your AAT levels by giving you supplemental normal AAT (collected and purified from blood donors) directly into a vein (IV infusions). This can’t reverse lung damage but can prevent future damage. It doesn’t prevent liver damage from Alpha-1.
- Inhaled corticosteroids and bronchodilators can make it easier to breathe by reducing inflammation and opening your airways.
- Oxygen therapy. If your oxygen levels are low, your provider may prescribe supplemental oxygen, which a machine delivers through a mask on your face or through small tubes in your nose.
- Pulmonary rehabilitation. Breathing exercises and physical therapy can make breathing easier.
- Smoking cessation therapy. If you smoke, your provider can recommend treatments to help you quit.
- Lung transplant. If your lungs are severely damaged, getting a healthy lung through a transplant can help improve your quality of life.
- Liver transplant. Your provider may recommend a liver transplant if your liver is badly scarred. A healthy liver should make normal AAT.
How can I prevent Alpha-1?
Because it’s inherited (you get it from your parents and are born with it), you can’t prevent Alpha-1. But that doesn’t mean you’ll develop the diseases it can cause. Even with an Alpha-1 diagnosis, there are several things you can do to reduce your risk of organ damage, including:
- Don’t smoke or vape. Avoid secondhand exposure to tobacco smoke.
- Avoid lung irritants. Use safety equipment (like face masks) if you work with chemicals or dust.
- Avoid alcohol use. You should limit or completely avoid alcohol use if you have certain types of Alpha-1 that can cause liver damage. You shouldn’t drink alcohol if you have liver damage.
- Ask your provider before taking medicatioor supplements that can affect your liver, like acetaminophen (Tylenol®). Read labels on prescription and over-the-counter medications, vitamins, and supplements for warnings about liver damage.
- Get vaccinated against infectious diseases. This includes respiratory illnesses like the flu, pneumonia, and COVID-19 and liver infectiolike hepatitis A and B. Wash your hands and take other precautioto avoid getting sick with illnesses that can cause lung inflammation.
- If a family member has Alpha-1, talk to your provider about getting tested. Having a family member with Alpha-1 increases your risk of having it or being a carrier.
- If you have Alpha-1 or are a carrier and want to have children, you may want to speak with a genetic counselor. They can help you understand the risk of passing genetic changes to your child.
What are the complicatioof Alpha-1?
Complicatioof Alpha-1 can affect your lungs, liver, or other orgaand include:
- Progressive lung conditio(like COPD).
- Permanent damage to your airways (emphysema, bronchiectasis).
- High blood pressure in the arteries leads from your heart to your lungs (pulmonary hypertension).
- Liver scarring (cirrhosis).
- Liver cancer (hepatocellular carcinoma).
- Heart, liver, or respiratory failure.
- Inflammation of the fat under your skin (panniculitis).”
Conclusion
In conclusion, Some people with Alpha-1 have few or no symptoms, while others have life-threatening complications. Having honest conversatiowith your healthcare provider can help you understand what to expect in your specific case.