Shortness of Breath

Shortness of Breath May Be a Sign of Alpha-1 Antitrypsin Deficiency

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If you’re experiencing a frequent shortness of breath, you might have a rare genetic condition called Alpha-1 Antitrypsin Deficiency.

Alpha-1 Antitrypsin Deficiency (Alpha-1) is a genetic condition passed from parents to their children through their genes. 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.

In most people, the alpha-1 protein neutralizes an enzyme in the lung, called neutrophil elastase, that destroys invading germs and digests damaged or aging cells 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.

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 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
  • Year-round allergies
  • Bronchiectasis

Read More About Lung Disease Symptoms: here

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