Alpha 1 Antitrypsin Deficiency & Pulmonary


Up to 100,000 people in US may have Alpha-1 deficiency.

90% of those are undiagnosed.

About 25 million people in the US may be carriers of the defective Alpha-1 gene.

If undetected 75-85% of patients with severe Alpha-1 Antitrypsin Deficiency will develop emphysema.

Alpha-1 is an inherited disorder.

Alpha-1 is more common than better known disorders such as cystic fibrosis but is frequently misdiagnosed or undiagnosed.

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CSL Behring is committed to helping people with Alpha-1 Antitrypsin Deficiency live full, healthy lives.

Alpha-1 Antitrypsin Deficiency is commonly called Alpha-1, AAT deficiency or genetic COPD. It is a hereditary disorder that may increase a person’s chances of developing lung disease such as chronic obstructive pulmonary disease (COPD) or emphysema.

The disorder is caused by a lack of the protein alpha-1 antitrypsin. This protein is made in the liver and protects the lungs from damage caused by infection and inhaled irritants such as smoke.1

People with Alpha-1 have very low levels of alpha-1 antitrypsin, meaning their lungs don't have the same protection as people without the disorder. This leaves them at risk for life-threatening lung and/or liver diseases. 3,4 The most serious liver diseases are cirrhosis and liver cancer.1

Augmentation Therapy
Alpha-1 proteinase inhibitors treat this chronic disorder by replacing the missing alpha-1 antitrypsin protein.

  • Zemaira®, CSL Behring’s Alpha-1 proteinase inhibitor, is the first Alpha-1 augmentation therapy approved by the US Food and Drug Administration as highly purified. In the US, Zemaira is indicated for chronic augmentation and maintenance therapy in adults with alpha-1 deficiency and clinical evidence of emphysema.
  • Respreeza®, CSL Behring’s highly purified Alpha-1 protein derived from human plasma licensed in the EU, is the only Alpha-1 proteinase inhibitor that has been proven in a prospective double blind, placebo controlled trial (the RAPID study) to significantly reduce the loss of lung tissue, slowing the progression of emphysema due to AATD. In the EU, Respreeza® is indicated for maintenance treatment, and to slow the progression of emphysema in adults with documented severe A1-PI deficiency (e.g. genotypes PiZZ, PiZ(null), Pi(null,null), PiSZ). Patients are to be under optimal pharmacologic and non-pharmacologic treatment and show evidence of progressive lung disease (e.g. lower forced expiratory volume per second (FEV1) predicted, impaired walking capacity or increased number of exacerbations) as evaluated by a healthcare professional experienced in the treatment of A1-PI deficiency. Respreeza® is contraindicated in patients with hypersensitivity to the active substance or to any of the excipients and IgA deficient patients with known antibodies against IgA, due to the risk of severe hypersensitivity and anaphylactic reactions.

Early diagnosis and treatment are crucial to help those with Alpha-1 have the fullest life possible.

Diagnosis of Alpha-1 Antitrypsin Deficiency
Alpha-1 is often misdiagnosed as COPD, asthma or emphysema because the symptoms are similar: shortness of breath, chronic cough, difficulty breathing, and wheezing.1 On average, people with Alpha-1 will see 3 doctors over 7 years before they are accurately diagnosed.2 During that time, lung damage progresses.

Prevalence of Alpha-1 Antitrypsin Deficiency
Alpha-1 Antitrypsin Deficiency is one of the most common serious hereditary disorders.4

  • Worldwide, 117 million people may have Alpha-1 Antitrypsin Deficiency-associated phenotypes 4,5
  • 3.4 million people are at risk of expressing severe Alpha-14,5
  • Of the 100,000 people in the US estimated to have Alpha-1 Antitrypsin Deficiency,3,4,6 approximately 90% don’t even know they have it7
  • About 3% of all people with COPD may have undetected Alpha-11

Testing for Alpha-1 Antitrypsin Deficiency
Alpha-1 is a laboratory diagnosis, not a clinical diagnosis. Therefore it can only be definitively diagnosed by a simple blood test. 8

Ask your healthcare professional whether you should be tested for Alpha-1 or visit for additional information about the condition.

1. Alpha-1 Foundation -- What is Alpha1? Alpha1 Fast Facts. Available at: Accessed on January 19, 2011
2. COPD International Network-You Are Not Alone. Available at Accessed on January 19, 2011.
3. Ranes J, Stoller JK. A review of Alpha1 Antitrypsin deficiency. Semin Respir Crit Care Med. 2005; 26:154-166.
4. American Thoracic Society. American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. AM J Respir Crit Care Med. 2003; 168:818-900
5. de Serres FJ. Worldwide racial and ethnic distribution of alpha 1-antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveys. Chest. 2002; 122(5):1818-1829
6. Campos MA, Wanner A, Zhang G, Sandhaus RA. Trends in the diagnosis of symptomatic patients with alpha-1 antitrypsin deficiency between 1968 and 2003. Chest. 2005; 128(3):1179-1186.
7. Silverman EK, Sandhaus RA. Clinical practice. Alpha-1 antitrypsin deficiency. N Engl J Med. 2009; 360(26): 2749-2757
8. Alpha-1 Foundation – Testing for Alpha-1. Available at Accessed on January 19, 2011

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