1 ALPHA-1. What is Alpha-1? A family history... of lung disease? of liver disease? FOUNDATION
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1 What is Alpha-1? A family history... of lung disease? of liver disease? What you need to know about Alpha-1 Antitrypsin Deficiency 1 ALPHA-1 FOUNDATION
2 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 build up of abnormal AAT in the liver that can cause liver disease. What are the most common symptoms of Alpha-1? Symptoms related to the lungs: Shortness of breath Wheezing Chronic cough and sputum (phlegm) production Recurring chest colds Symptoms related to the liver: Eyes and skin turning yellow (jaundice) Swelling of the abdomen (ascites) Vomiting blood or passing blood in the stool What are some important facts about Alpha-1? Alpha-1: Is a genetic disorder that leads to low or undetectable levels of AAT May cause lung disease in adults May cause liver damage that gets worse over time in adults, children and infants Often goes undetected for years Can be treated, but cannot be cured without a liver transplant Is easy to find through a blood test How is Alpha-1 inherited? Half of your genes are passed on from each parent. You can inherit Alpha-1 from Alphas (people with two abnormal AAT genes) or carriers (people with one normal and one abnormal AAT gene). Refer to the figure below to see what could happen for children if both parents are carriers. This figure shows the genes that result in normal AAT protein levels (M) and low to undetectable AAT protein levels (). 1 2
3 Risks associated with common genetic variants FATHER M M M M M CHILDREN MOTHER M Normal (MM) Does not have the disorder; does not carry any abnormal AAT genes. Carrier (M) Mild to moderate AAT Deficiency may get disease symptoms and does carry an abnormal AAT gene. Carrier (MS) It is unclear whether there is a risk for getting disease symptoms but does carry an abnormal AAT gene (most studies do not show an increased risk for disease). Alpha-1 (S) or () Moderate (S) to severe () deficiency could get disease and does carry two abnormal AAT genes. Alpha-1 (SS) It is unclear whether there is a risk for getting disease symptoms but does carry two abnormal AAT genes (most studies do not show an increased risk for disease). Blood relatives of a person diagnosed with Alpha-1 Anyone with panniculitis, a skin disease Testing for Alpha-1 Testing for Alpha-1 is fairly simple, quick, and highly accurate. It is done through a blood test or a mouth swab test. People at risk for Alpha-1 should be tested because: There are treatments and preventive measures that may slow the progression of lung disease and help you take better control of your health. Since it is hereditary, Alpha-1 can be passed on to your children. It should be considered when making decisions about having children and should be discussed with your family members. The test for Alpha-1 requires a physician s prescription and is usually covered by medical insurance. Confidential testing is available through the Alpha-1 Coded Testing (ACT) Study, through which anyone can have a free, confidential test and get their results. For more information on the ACT Study, call (877) Who should be tested for Alpha-1? Everyone with emphysema, chronic obstructive pulmonary disease (COPD), chronic bronchitis or asthma that is incompletely reversible after aggressive treatment Individuals with bronchiectasis Newborns, children and adults with unexplained liver disease Individuals with a family history of liver disease 3 4
4 Informed Consent Informed consent is the process through which a person receives appropriate information, understands that information and agrees to testing. It originates from the legal and ethical right the patient has to direct what happens to their body and from the ethical duty of the physician to involve the patient in their healthcare. You should discuss the decision to get tested for Alpha-1 with your doctor and make sure all of your questions are answered. Learning information about you and your family by genetic testing offers benefits and poses some risks. Potential benefits 5 Allow you to increase your awareness of Alpha-1 and your personal risk Provide information for future health care decisions Allow you to take steps that may slow the progression of Alpha-1 Assist you and your family in making decisions about work and lifestyle Assist those of child-bearing age in understanding risk to children Potential harms May be personally unsettling May affect your ability to get health and life insurance May influence willingness of employers to hire you May create stress in your family May increase your personal health care costs (For more information on Informed Consent, see What should I do with the results? Contact your physician or primary healthcare provider. Create an exercise program (under medical supervision). Create a nutrition program (under medical supervision). Think about your health behavior (smoking, alcohol use, and excess weight). Ask your healthcare provider for a copy of the brochure Guide for the Recently Diagnosed. Contact the resources listed in this brochure for more information. Avoid risk factors: Stop smoking and avoid secondhand smoke as much as possible. Avoid being around dust and fumes. Decide who to inform in your family, and urge anyone who might be affected to get tested also. 6
5 RESOURCES Alpha-1 Foundation Toll Free: (877) The not-for-profit Foundation provides resources, education, and information on testing and diagnosis for healthcare providers and people affected by Alpha-1. It funds cutting edge research to find treatments and a cure and supports worldwide detection of Alpha-1. AlphaNet Toll Free: (800) AlphaNet assists patients and families with support, education and strategies to manage their health. It also sponsors clinical trials for Alpha-1 therapies and produces The Big Fat Reference Guide to Alpha-1, a complete guide to understanding, managing and living with 7 Alpha-1, and includes key terms, testing, genetics, and treatment options. It is available through the website or number listed above. The Alpha-1 Research Registry Toll Free: (877) The Research Registry is a confidential database of Alphas and carriers. The Registry gives patients the opportunity to provide information to help advance research on the disorder through questionnaires and clinical trials. It also provides access to experts on Alpha-1 care. Individuals enrolled in the Registry have the ongoing opportunity to participate directly in clinical trials of new therapeutic approaches, in addition to other research opportunities. Alpha-1 Foundation Patient Information Line Toll Free: (800) The Patient Information Line is available free of charge to anyone affected by Alpha-1 and provides support to newly diagnosed Alphas, Alphas seeking basic information, or help such as requesting a peer guide, physician referral, requests for literature, etc. Alpha-1 Foundation Genetic Counseling Program Toll Free: (800) The Genetic Counseling Program offers free phone-based confidential information and resources to Alphas, family members and medical professionals. It provides information on the genetics of Alpha-1 and testing options. Alpha-1 Foundation Support Network Toll Free: (855) The Support Network is a collective of more than 80 Support Groups including four Virtual Support Groups. These groups are committed to improving the quality of life of individuals and their families affected by Alpha-1 and to extending the mission of the Alpha-1 Foundation. 8
6 RESOURCES Alpha-1 Kids (877) Alpha-1 Kids provides support and information for parents and children with Alpha-1. American Association for the Study of Liver Diseases (703) This is the leading organization of scientists and healthcare professionals committed to preventing and curing liver disease. American Liver Foundation Toll Free: (800) The Foundation provides information on prevention, treatment and potential cures for liver diseases. American Lung Association (ALA) Toll Free: (800) The ALA focuses on the prevention of lung disease through educational programs, research and advocacy. Children s Liver Association for Support Services Toll Free: (877) This group serves the emotional, educational and financial needs of families and children with liver disease. Cholestatic Liver Disease Consortium (720) The Consortium provides support and information for children and families with rare cholestatic liver diseases. For information on liver issues related to AAT, visit this website and click on the Alpha-1 link. 9
7 1 ALPHA-1 FOUNDATION The Alpha-1 Foundation is committed to finding a cure for Alpha-1 Antitrypsin Deficiency and to improving the lives of people affected by Alpha-1 worldwide. 1 (877) 2 CURE A1 1 (877) PONCE DE LEON BLVD. CORAL GABLES, FL Unrestricted educational grants provided by: AlphaNet Baxter Healthcare CSL Behring Dohman Life Science Services Grifols 2012, Alpha-1 Foundation, Version 1.7 (08/14)
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