Lung Disease

Alpha-1 Lung Disease
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.
- See more at: http://www.alpha1.org/Newly-Diagnosed/Learning-about-Alpha-1/Lung-Disease#sthash.Yuf9MWLg.dpuf


The most common signs of lung disease in people with Alpha-1:
  • Shortness of breath
  • Wheezing
  • Chronic cough and sputum (phlegm) production (chronic bronchitis)
  • Recurring chest colds or pneumonia
  • Low tolerance for exercise
  • Non-responsive asthma or year-round allergies
  • Bronchiectasis
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.
The World Health Organization (WHO), American Thoracic Society (ATS), and the European Respiratory Society (ERS) recommend that everyone with COPD, bronchiectasis, or asthma that isn’t controlled with usual medications, be tested for Alpha-1.

How Alpha-1 lung disease developsplus

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Treatment for Alpha-1 lung disease

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.
- See more at: http://www.alpha1.org/Newly-Diagnosed/Learning-about-Alpha-1/Lung-Disease#sthash.Yuf9MWLg.dpuf
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