Alpha-1 Antitrypsin Deficiency (Alpha-1) is a genetic condition passed from parents to their children through their genes. Genes are the code, or instructions, to our body’s cells that give us blue eyes, black hair, and so on. We inherit our genes from our parents – half from each parent – so we say our skin color or other characteristic is inherited or genetic. Because Alpha-1 is genetic, Alpha-1 lung disease is commonly called “genetic COPD.” People with Alpha-1 lung disease have two abnormal genes (one from each parent). The most common abnormal genes are called Z and S genes.
There are about 100,000 people with Alpha-1 (two Z genes, usually referred to just as “ZZ”) in the United States, and about the same number in Europe. Another severely deficient gene combination is SZ, though people with this gene combination are less likely to get lung problems than those with two Z genes. Many Alphas (as people with Alpha-1 are called), even those with ZZ or SZ genes, are entirely healthy.
- Shortness of breath
- Chronic cough and sputum (phlegm) production (chronic bronchitis)
- Recurring chest colds or pneumonia
- Low tolerance for exercise
- Year-round allergies
Early diagnosis of Alpha-1 is very important because quitting smoking (if the Alpha smokes) and early treatment are both essential to help slow the progression of Alpha-1 lung disease.
However, Alpha-1 Antitrypsin Deficiency can’t be diagnosed by symptoms or by a medical examination alone; you need to get a blood test to know for sure.
Alpha-1 is often first diagnosed as asthma or smoking-related Chronic Obstructive Pulmonary Disease (COPD). COPD includes emphysema and chronic bronchitis. Alpha-1 is the most common genetic risk factor for COPD. About 3 percent of all people diagnosed with COPD may have undetected Alpha-1.
Current guidelines recommend that everyone with COPD or unexplained bronchiectasis be tested for Alpha-1.
Alphas are lacking (have a “deficiency” of) the protective protein alpha-1-antitrypsin (AAT), which is made primarily in the liver.
Normal white blood cells in the lung produce an enzyme called neutrophil elastase that destroys invading germs and digests damaged or aging cells. In most people, the alpha-1 protein neutralizes the enzyme after a short time. In Alphas, there isn’t enough alpha-1 protein in the lungs; the enzyme then keeps on working, attacking and destroying normal lung tissue. As this damage continues over years, lung disease such as COPD can develop.
Alphas who smoke are at much greater risk of COPD than most people. Even Alphas who have never smoked may develop severe lung disease. Alphas often develop COPD while they are in their 30s or 40s. People who do not have Alpha-1, even longtime smokers, usually don’t develop COPD symptoms until they are in their 60s or 70s.
Alphas often develop COPD primarily in the lower part of their lungs, whereas most non-Alphas, especially smokers, show the worst COPD damage in the top part of the lungs.
While both early-onset COPD and lung damage that is worse in the lower lungs are clues to diagnosis, please remember:
Alpha-1 Antitrypsin Deficiency can’t be diagnosed by symptoms or by a medical examination alone; you need to get a blood test to know for sure.
There is no cure for Alpha-1 lung disease, but treatments are available.
Alphas with lung diseases such as asthma, COPD or bronchiectasis can be helped by the same drugs that are used by non-Alphas for these conditions.
These include drugs to open up the lung passages (bronchodilators) and reduce the chronic inflammation that is common in the lungs of Alphas (corticosteroids).
Since infections in the lung can bring millions of extra white blood cells into the lungs, many doctors who care for Alphas recommend that lung infections be treated early and aggressively with antibiotics. One sign of a lung infection is when the Alpha starts to cough up mucus or phlegm that is yellow or green in color.
Augmentation therapy consists of intravenous infusions, usually weekly, of alpha-1 antitrypsin protein purified from healthy plasma donors. The goal is to increase the level of alpha-1 protein in the blood and lungs in order to slow or stop the progression of Alpha-1 lung disease.
Augmentation therapy has been shown to increase blood and lung levels of alpha-1 antitrypsin protein, reduce the rate of decline of lung function, and improve survival.
Augmentation therapy cannot restore lost lung function and is not considered a cure. However, this therapy is currently the standard of care for Alphas with COPD.
Augmentation therapy is also recommended for the Alpha-1 related skin disease Necrotizing Panniculitis.
Augmentation therapy is not a treatment for Alpha-1 liver disease.
Augmentation therapy is prepared from pooled human blood plasma that has been screened for hepatitis A, B, and C and tested for HIV as well as other infectious viruses. Additional antiviral procedures are used by all manufacturers during the purification process. While any product derived from blood can have side effects, augmentation therapy has been in use for more than 25 years with an excellent safety record.
Of the side effects that have been reported, headaches, muscle and joint pain, and temporary flu-like symptoms are the most frequent complaints. Alphas with edema or heart failure may have worsening of their shortness of breath.
Our Clinical Director, Robert A. Sandhaus, MD, PhD, answers your questions about Alpha-1 Lung Disease. Read the Questions and Answers.
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