Have you ever noticed a sudden cough come on that doesn’t seem to want to go away? Or felt strong during exercise one day, then found yourself getting short of breath over the next few weeks? Maybe you notice it’s getting a little harder to breath as the years go on.
Chronic cough, shortness of breath, and difficulty breathing are all common symptoms of alpha-1 antitrypsin deficiency (AATD) and chronic obstructive pulmonary disease (COPD). While they may seem like similar conditions based on the symptoms and treatment, the causes are long-term effects are different.
What is Alpha 1?
Alpha-1 Antitrypsin Deficiency (AATD) is a genetic condition that impacts your lungs and liver and can lead to a serious lung or liver disease, and in some a skin disease. Commonly referred to as alpha -1, this rare disease affects nearly 100,000 people in the United States.
Alpha-1 antitrypsin (AAT) is a protein produced in the liver and is found in the lungs and bloodstream. It helps protect the lungs and other tissues from damage caused by illnesses, infections, and inflammation. AAT works in conjunction with an enzyme called elastase. This enzyme is made by specific tissue in the pancreas and is an important part of the digestion process because helps to break down carbohydrates, fats, and proteins after eating. However, too much of this enzyme can be harmful.
AAT inhibits the production and release of elastase, which helps to regulate the amount active in the body. When AAT levels in the blood are reduced or absent the balance between the two compounds is thrown off, resulting in damage to tissue in the body, especially in the lungs. Levels of ATT become low in the blood because of gene mutations that prevent it from being released from the liver at a normal rate. When levels of ATT build up in the liver, it can lead to liver disease.
Common symptoms of alpha-1 related to the lungs include:
- Shortness of breath
- Chronic bronchitis
- Chest colds
- Less exercise tolerance
Because the symptoms are often sublet or are mistaken for other lung conditions, most cases of alpha-1 go unrecognized and underdiagnosed. The only way to know if you have AATD is to get tested. A simple blood test can diagnose the condition.
What Causes Alpha-1?
Alpha-1 is inherited, meaning it is passed from parents to a child through their genes. For every trait a person inherits there are two genes, one from each parent. To get alpha-1, a person must have two abnormal alpha-1 antitrypsin genes. The SERPINA1 gene is responsible for ATT. The most common abnormalities to the SERPINA1 gene that causes a deficiency are S and Z, while a normal gene is termed M.
People who are diagnosed with alpha-1 usually have two Z genes (ZZ), which is also the most dangerous. This gene abnormality is typically associated with lung and liver disease. Another gene combination commonly seen in alpha-1 patients is SZ, though this gene combination is less likely to result in lung or liver problems.
It’s estimated that nearly 19 million people in the United States have one normal gene (M) and one defective gene. This could look like MZ or MS. These are called carriers and won’t exhibit symptoms of alpha-1, or lung and liver disease because of the alpha-1 gene mutation. Carriers can pass the defective gene onto their children.
While environmental factors can’t directly cause alpha-1, they can impact the severity of the disease. Exposure to tobacco smoke, chemicals, pollution, and dust can all make the condition worse. Researchers believe that this is because people with AATD are more susceptible to pulmonary damage stimulated by environmental factors.
How Does Alpha-1 Differ from COPD?
Alpha-1 is the leading genetic risk factor for chronic obstructive pulmonary disease (COPD). COPD is a group of long-term lung diseases, like chronic bronchitis and emphysema, that affects nearly 16.4 million Americans. Common symptoms are similar to those of AATD, including:
- Shortness of breath
- Mucus production
- Less exercise tolerance
Emphysema in particular has been linked to AATD. Emphysema develops over time and involves the slow, gradual damage of certain lung tissue called alveoli. Alveoli are tiny air sacs in the lungs where the blood exchanges oxygen and carbon dioxide during the breathing process. When air is breathed in, alveoli stretch to draw oxygen in and transport it into the bloodstream to circulate to the rest of the body. When you exhale, alveoli shrink which forces carbon dioxide out of the body.
Damage to the alveoli causes lung tissue to be destroyed and prohibits the ability to support the bronchial tubes. As a result, the air sacs rupture and create a blockage that traps air in the damaged tissue and prevents oxygen from moving into the bloodstream.
Smoking is the leading cause of emphysema and other COPD conditions, but alpha-1 can also lead to the disease. Alpha-1 is thought of as a precursor to emphysema, accounting for 2-3% of all instances of emphysema. Many people who have alpha-1 will develop COPD in their 30s or 40s, however, not everyone who has alpha-1 will go on to develop any type of lung disease. This is especially true for people who never smoke or aren’t around people who smoke often.
For people with alpha-1 who do develop COPD, it is primarily contained in the lower part of the lung. But for those who don’t have alpha-1, the most COPD damage is at the top part of the lung.
The diagnosis process is also different for COPD compared to alpha-1. To diagnose COPD, your doctor will analyze your symptoms, ask for your complete health history, and perform a physical exam. They will likely order testing, such as:
- Chest x-ray
- Arterial blood gas test
- CT Scan
While laboratory tests can’t diagnose COPD, a doctor may order them to rule out other conditions like alpha-1.
How Are Alpha-1 and COPD Treated?
There is no cure for alpha-1 antitrypsin deficiency, but there are treatments that can help treat and prevent further lung damage. People with alpha-1 who also have lung diseases like COPD can receive the same treatments used for those without alpha-1 who have the same condition.
Because symptoms may vary from person to person, treatment options will too. Your doctor will likely use a combination of medications to treat COPD to help alleviate symptoms and reduce the number of flare-ups or exacerbations. Some medications used to manage COPD include:
- Bronchodilators: These medications work by relaxing the muscles around the airways, which helps keep them open and makes breathing easier. They are often taken through an inhaler or nebulizer so the medicine is breathed directly into your lungs. Bronchodilators can be both short and long-acting. Short-acting bronchodilators work quickly, but their effects wear off within a few hours. Long-acting bronchodilators usually take longer to feel an effect, but will last longer. The two main bronchodilators are beta2-agnoists and anticholinergics, that can be either short or long-acting and work in slightly different ways. Your doctor will help you figure out which is the best fit for you based on your symptoms.
- Corticosteroids: Decreasing inflammation will help reduce the swelling and mucus production, making it easier to breathe. Corticosteroids can be inhaled with an inhaler or taken in pill form. Because they have more serious side effects, they are often prescribed for the short term and recommended only to be taken in certain circumstances.
- Antibiotics: Both alpha-1 and COPD increase the risk of a bacterial or viral infection. A doctor may give you antibiotics to keep on hand if get an infection. If you do have one, it’s important to take the medication as prescribed. Antibiotics can work quickly and you may start to feel better after a day or two, but that doesn’t mean the infection is cleared. Cutting the course of antibiotics short can allow the infection to return quickly or become resistant to the medication.
- Vaccinations: Rather than waiting for an infection to occur, your doctor may suggest vaccinations, like the flu shot or covid-19 vaccince, to decrease the likelihood of catching it. Flu shots and other vaccinations should be received yearly to prevent infection from a new strain. Pneumococcal pneumonia is serious bacterial lung infection that often follows other infections. For someone with alpha-1 or COPD, it could be fatal. You only need to be vaccinated once, but you will need to get both vaccines to protect against this infection.
In addition to medications, doctors may recommend other types of treatments for people with both alpha-1 and COPD including:
- Augmentation therapy
- Lung volume reduction surgery (LVRS)
- Lung transplant for severe cases.
It’s also important to implement lifestyle modifications like regular exercise, balanced nutrition, avoid smoking and highly polluted areas.
Find the Support You Need
Many people with alpha-1 antitrypsin deficiency will live an active and fulfilling life. Those who have the gene mutation will not develop serious complications, especially if they take preventative measures to protect their health. People who do develop a more serious condition like COPD, they will need life-long support and treatment.
If you have alpha-1 or COPD, know you are not alone. There are hundreds of members at PatientsLikeMe, who understand what you are going through. Join the conversation today to find the support you need as you manage your condition.