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When Bob Campbell found out that he had alpha-1 antitrypsin deficiency (alpha-1) at age 55, he'd never heard of this inherited lung disease before. Most people haven't.

But once he learned more, it made sense. "That diagnosis explained so much," he says. Campbell had emphysema by his late 20s. He had a family history of severe lung problems. Up until that moment, he never knew why.

Alpha-1 is genetic. People with it have two copies of a faulty gene, one from each parent. Like Campbell, many people with this condition have a family history of lung and liver problems.

Even though he saw several doctors over the years, Campbell had to wait 27 years to get the right diagnosis. It shouldn't take that long. Alpha-1, also called AAT deficiency, is rare. But it's easy to find with a simple blood test. The sooner you find out you have it, the sooner you can start treatment that may protect your lungs.

What Is Alpha-1 Antitrypsin Deficiency?

The first signs are usually lung problems, like chronic wheezing or coughing. But the problems start in your liver. It doesn't send enough of a special protein, called alpha-1, out into the bloodstream. The protein is needed to protect your lungs.

Over time, the lack of the protein can lead to lung damage. Tobacco smoke, pollution, and even common colds can cause serious illness.

Symptoms include:

  • Shortness of breath and wheezing
  • Chronic cough with mucus
  • Colds that don't go away
  • Asthma that doesn't get better with treatment

In some people, the buildup of the alpha-1 protein in the liver leads to problems, including:

  • Jaundice, which causes your skin and eyes to turn yellowish
  • Swelling in your belly and legs

No one can diagnose it based on symptoms alone. You need a blood test.

Many other conditions share some of these symptoms. That's why doctors often miss it. It's estimated that fewer than 10% of people with the illness know they have it.

"Many people that I see with alpha-1 were misdiagnosed," says Robert A. Sandhaus, MD, PhD, of National Jewish Health in Denver. "Their doctors told them they had asthma and never tested them."

Often, people are first told they have COPD (chronic obstructive pulmonary disease) and only later learn it's actually alpha-1.

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.