Alpha-1

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Information for Patients

Alpha-1 Week

Lung Information for Patients

What Is Alpha-1?

Alpha-1 Antitrypsin Deficiency (Alpha-1) is a hereditary condition that is passed on from parents to their children through genes. This condition may result in serious lung disease in adults and/or liver disease in infants, children and adults. Alpha-1 occurs when there is a severe lack of a protein in the blood called alpha-1 antitrypsin (AAT) that is mainly produced by the liver. The main function of AAT is to protect the lungs from inflammation caused by infection and inhaled irritants such as tobacco smoke. The low level of AAT in the blood occurs because the AAT is abnormal and cannot be released from the liver at the normal rate. This leads to a buildup of abnormal AAT in the liver that can cause liver disease.

Testing for Alpha-1

Testing for Alpha-1 is simple, quick and highly accurate. Testing can be conducted on a blood sample (blood draw or finger stick test). Consult with your health insurance provider to determine if your plan covers the cost of this test.

Who should be tested for Alpha-1?

 Anyone who has COPD (emphysema and/or chronic bronchitis), regardless of age or ethnicity

  1. People who have unexplained chronic liver disease
  2. People who have necrotizing panniculitis, granulomatosis with polyangiitis, or unexplained bronchiectasis
  3. Parents, siblings and children, as well as extended family members, of people who have been identified with an abnormal gene for Alpha-1, should be provided genetic counseling and offered testing for Alpha-1
  4. For family testing, alpha-1-protein-level testing alone is not recommended because it does not fully characterize the risk of disease from Alpha-1
  5. For family testing or diagnostic testing of people who have symptoms, genotyping is recommended for at least the S and Z alleles. Advanced or confirmatory testing should include Pi-typing, alpha-1-protein-level testing, and/or expanded genotyping

Living with Alpha-1

Many Alphas live a healthy and fulfilling life with proper treatment and lifestyle changes. With planning, education, support and most importantly, patience, it is possible to continue to work, travel and exercise and do the many things that you enjoy doing.

Treatment for Alpha-1

The specific therapy for the treatment of Alpha-1-related lung disease is augmentation therapy – also called replacement therapy. Augmentation therapy is the use of alpha-1 antitrypsin protein (AAT) from the blood plasma of healthy human donors to augment (increase) the alpha-1 levels circulating in the blood and lungs of Alphas diagnosed with emphysema. The therapy is administered by a weekly intravenous infusion and, until other therapies become available, is considered ongoing and lifelong.

Alpha-1 Clinical Resource Centers

Clinical Resource Centers (CRCs) are located throughout North America and specialize in patient care, education and research for those with Alpha-1 Antitrypsin Deficiency (Alpha-1). Some centers treat lung disease and others liver disease. Many have other resources for Alphas, such as support groups, pulmonary rehabilitation and organ transplant programs. There are CRCs in most states but not all. If your state has no CRC, you may be able to find one in a state nearby. And if you happen to know a knowledgeable Alpha doctor in your state who is not in our listings, we'd welcome an application from the doctor.

Alpha-1 Research

The Alpha-1 Foundation has invested more than $65 million to support Alpha-1 Antitrypsin (AAT) research and programs. Research projects have been conducted at 106 institutions in North America, Europe, the Middle East and Australia. The level of research activity in AAT is at an all-time high and holds much hope for the future for people diagnosed with AAT Deficiency.

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.

Alpha-1 Liver Disease

Alpha-1 Antitrypsin Deficiency (Alpha-1) can cause liver problems in infants, children or adults – as well as the better-known adult lung disease. In people with Alpha-1 (Alphas), large amounts of abnormal alpha-1 antitrypsin protein (AAT) are made in the liver; nearly 85 percent of this protein gets stuck in the liver. If the liver cannot break down the abnormal protein, the liver gradually gets damaged and scarred.

Participate in Research

The Alpha-1 Foundation Research Registry at the Medical University of South Carolina is a confidential database of Alphas and Alpha-1 carriers across the country who are willing to participate in research. This can include something as grand as enlisting in a clinical trial to test new drugs or therapies – or something small, like filling out a research questionnaire.

Find an Alpha-1 Specialist

Finding an "Alpha doc" — a doctor who is knowledgeable about Alpha-1 — can be a challenge sometimes.  We have many across the country and programs to help you get there.

Support Groups

The Alpha-1 Foundation Support Group Network is a collective of more than 80 affiliated support groups including four Virtual Support Groups (Alpha-1 Families, Caregivers, Pre and Post Transplant & Timely Topics). These groups are dedicated to providing support, education and information to people affected by Alpha-1 and to extending the mission of the Alpha-1 Foundation.

Patient Information Line

The Patient Information Hotline, operated by Cathey Horsak, Director of Community Programs, is available free to Alphas, their families, caregivers, healthcare providers, or anyone affected by Alpha-1.  The Information Hotline guides callers to the appropriate resources, calms their fears and lets them know that they are not alone. To reach the Patient Information Hotline, call 1 (800) 245-6809.

ATS Breathing in America Book

The Breathing in America: Diseases, Progress, and Hope compilationbriefly describes respiratory diseases and the progress that is being made in the quest to find their cures.

ATS Patient Information Series

The ATS Patient Information Series is a public service of the American Thoracic Society and its journal the AJRCCM (www.atsjournals.org). The information appearing in this series is for educational purposes only and should not be used as a substitute for the medical advice of one's personal health care provider.