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Alpha-1 antitrypsin deficiency (AAT deficiency) is an inherited disease, which means it's passed down to you by your parents. It can lead to lung disease, especially if you smoke.

If you think there's a chance you have AAT deficiency, you may want to be tested. Though there's no cure yet, you can make smart moves to protect your lungs and be sure you get the right treatments.

Who Is at Risk?

If you have COPD, your doctor may check to see if you have AAT deficiency. 

Symptoms of AAT deficiency include:

  • Shortness of breath
  • Wheezing
  • Frequent respiratory infections like colds, flu, or bronchitis
  • Fatigue
  • Unexplained weight loss

Since AAT deficiency runs in families, you may want to be tested if you have a relative with it.

Two Kinds of AAT Deficiency

People who develop the illness have two faulty genes, one passed from each parent. Genes are part of your DNA.

It's possible to have just one faulty gene, which makes you a carrier. You won't get AAT deficiency yourself, but you can pass it to your children.

If you inherit two faulty genes, you can develop emphysema in your 40s or 50s -- or you may never get symptoms of lung disease. You may never even know you have AAT deficiency. So although a test may show that you have both genes, it cannot say for certain what will happen to your health.

Blood Tests and Lung Checks

The best way to diagnose AAT deficiency is with a test that looks at your DNA. Your doctor will take a blood sample or swab the inside of your cheek. Lab workers will check the sample for the faulty genes that cause AAT deficiency.

Another blood test measures how much of the AAT protein is present in your body. If the level is much lower than normal, that's a sign of AAT deficiency.

Your doctor may also suggest tests to look for lung disease. These may include:

  • A CT scan. This type of X-ray can spot emphysema.
  • A lung test to measure how much air you breathe in and out in a short time.
  • A blood gas test to measure how much oxygen is in your blood.
is the cause of your copd genetic

Is the Cause of Your COPD Genetic?

Knowing if you have alpha-1 is the first step to getting help from your doctor. An alpha-1 blood test is the only way for you and your doctor to know whether you have alpha-1. And if you do, your doctor can discuss potential treatment options and testing for other family members.

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Important Safety Information

PROLASTIN®-C (alpha1-proteinase inhibitor [human]) is indicated for chronic augmentation and maintenance therapy in adults with clinically evident emphysema due to severe deficiency of alpha1-proteinase inhibitor (alpha1-antitrypsin deficiency).

The effect of augmentation therapy with any alpha1-proteinase inhibitor (alpha1-PI), including PROLASTIN-C, on pulmonary exacerbations and on the progression of emphysema in alpha1-antitrypsin deficiency has not been conclusively demonstrated in randomized, controlled clinical trials. Clinical data demonstrating the long-term effects of chronic augmentation or maintenance therapy with PROLASTIN-C are not available.

PROLASTIN-C is not indicated as therapy for lung disease in patients in whom severe alpha1-PI deficiency has not been established. PROLASTIN-C is contraindicated in IgA-deficient patients with antibodies against IgA due to risk of hypersensitivity.

Hypersensitivity reactions may occur. Should evidence of hypersensitivity reaction be observed, promptly stop infusion and begin appropriate therapy.

PROLASTIN-C may contain trace amounts of IgA. Patients with known antibodies to IgA, which can be present in patients with selective or severe IgA deficiency, have a greater risk of developing potentially severe hypersensitivity and anaphylactic reactions. PROLASTIN-C is contraindicated in patients with antibodies against IgA.

The most common drug-related adverse reaction observed at a rate of > 5% in subjects receiving PROLASTIN-C was upper respiratory tract infection. The most serious adverse reaction observed during clinical trials with PROLASTIN-C was an abdominal and extremity rash in 1 subject.

Because PROLASTIN-C is made from human plasma, it may carry a risk of transmitting infectious agents, eg, viruses and, theoretically, the Creutzfeldt-Jakob disease (CJD) agent.

Please see PROLASTIN-C full Prescribing Information for complete prescribing details.