1. MedlinePlus Medical Encyclopedia: Alpha-1 Antitrypsin Deficiency Information on signs and symptoms of this disorder, as well as risk factors and treatment. http://www.nlm.nih.gov/medlineplus/ency/article/000120.htm

@import url(/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Alpha-1 antitrypsin deficiency Contents of this page: Illustrations Alternative names Definition Causes, incidence, and risk factors ... Calling your health care provider Illustrations Lungs Liver anatomy Alternative names Return to top AAT deficiency Definition Return to top Alpha-1 antitrypsin deficiency is a lack of a liver protein that blocks the destructive effects of certain enzymes. The condition may lead to emphysema and liver disease Causes, incidence, and risk factors Return to top Alpha-1 antitrypsin deficiency results from a genetic defect. The mechanism that causes associated liver disease and emphysema in some people with this deficiency is not known. However some evidence suggests that it may be related to inflammation. Approximately 75% of adults with severe deficiency will develop emphysema, which often begins before 40 years of age. Smoking can increase risk. Symptoms Return to top Shortness of breath with and without exertion Unintentional weight loss Wheezing Additional symptoms that may be associated with emphysema or cirrhosis include the following: Abnormal breathing pattern (exhalation takes more than twice as long as inspiration) Agitation Ankle, feet, and leg swelling

2. Alpha-1 Association Organization which attempts to identify those affected by alpha1-antitrypsin deficiency and to improve their quality of their lives through support http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

3. Alpha-1 Antitrypsin Deficiency A haven for those affected by Alpha1 Antirypsin Deficiency. Facts, chat rooms, assistance programs, and reference material. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

4. MedlinePlus: Alpha-1 Antitrypsin Deficiency alpha1 antitrypsin deficiency. National Heart, Lung, and Blood Institute. Information from the Medical Encyclopedia; alpha-1 antitrypsin deficiency http://www.nlm.nih.gov/medlineplus/alpha1antitrypsindeficiency.html

@import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Other health topics: A B C D ... List of All Topics Alpha-1 Antitrypsin Deficiency Contents of this page: Overviews Diagnosis/Symptoms Genetics Research ... Information from the Medical Encyclopedia Search MEDLINE/PubMed for recent research articles on Alpha-1 Antitrypsin Deficiency You may also be interested in these MedlinePlus related pages: COPD (Chronic Obstructive Pulmonary Disease) Genetics/Birth Defects Lungs and Breathing Overviews Alpha-1 Antitrypsin Deficiency (American Liver Foundation) Guide for the Recently Diagnosed Individual: Alpha-1 Antitrypsin Deficiency (Alpha One Foundation) - Large PDF file Also available in: Spanish Diagnosis/Symptoms Alpha-1 Antitrypsin (American Association for Clinical Chemistry) What Is Alpha-1? Should I Be Tested? (Alpha One Foundation) - Links to PDF Related Issues Alpha-1 Related Emphysema (American Lung Association) Clinical Trials ClinicalTrials.gov: alpha 1-Antitrypsin Deficiency (National Institutes of Health) Genetics Genetics Home Reference: Alpha-1 antitrypsin deficiency (National Library of Medicine) Research Alpha-1 DNA and Tissue Bank (Alpha One Foundation) - Links to PDF Family Linkage in the Alpha-1 Research Registry (Alpha One Foundation) - Links to PDF Organizations Alpha One Foundation National Heart, Lung, and Blood Institute

5. Alpha-1 Antitrypsin Deficiency What is alpha1 antitrypsin deficiency? alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung or liver disease. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

6. Home Hunter's Gift is a site dedicated to a child who suffered alpha1 antitrypsin deficiency.Hunter truly touched each and every person he met during his brief life. http://www.huntersgift.org/

Welcome to Hunter's Gift Hunter Lee Heitzman September 23, 2002-April 8, 2003 Mission Statement: "Hunter's Gift" is our life-long commitment to increase public awareness of early screening and diagnosis for Alpha-1 Antitrypsin Deficiency, a genetic disease affecting 1 out of every 35 people. Our hope is that by sharing Hunter's story through "Hunter's Gift", we will increase public knowledge and awareness of Alpha-1 and organ donation. A simple blood test at birth is the key to saving lives. This web site is dedicated to the memory of our infant son, Hunter Lee Heitzman. He was only 6 1/2 months old when he passed away from Alpha-1. Our mission is to help raise funds to support research efforts to find a cure for Alpha-1. Marcie and David Heitzman The information in this site is used for educational purposes for people affected with Alpha-1 Antitrypsin Deficiency and for those who think they may be affected. It is not intended to be used in place of medical advice. If you suspect you are affected please seek medical attention A.S.A.P. To contact Hunter's Gift click on the e-mail link below: info@huntersgift.org

7. Alpha One Foundation in increased research, improved health, worldwide detection and a cure for alpha1 antitrypsin deficiency (Alpha-1). Alpha-1 is a genetic http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

8. Alpha-1 Antitrypsin Deficiency alpha1 antitrypsin deficiency is an inherited disorder that may cause lung or liver disease. Normally, the protein alpha-1 antitrysin, is released into the http://www.lung.ca/diseases/alph1.html

What is Alpha-1 Antitrypsin Deficiency? Alpha-1 Antitrypsin deficiency is an inherited disorder that may cause lung or liver disease. Normally, the protein alpha-1 antitrysin, is released into the bloodstream and travels to the lung where it protects the lungs from the destructive actions of common illnesses and exposures, particularly tobacco smoke. People with a deficiency of this protective protein often suffer from progressive lung damage known as emphysema. Unlike the common form of emphysema seen in otherwise healthy individuals who have smoked for many years, this alpha antitrypsin deficiency form of emphysema may occur at an unusually young age and after minimal exposure to tobacco smoke. Visit the Alpha 1 Association web site. They are a non-profit, membership organization, dedicated to improving the lives of individuals and their families affected by alpha-1 antitrypsin deficiency. Alpha1 Canadian Registry This is the Canadian site for the International Alpha1 Registry. The International Registry has been set up with approximately 3500 participants. There are several goals of this registry. Initially, the registry will gather existing medical information about people who are deficient in the protein to understand better why some people remain healthy and free of lung disease and why some people develop emphysema. In the longer term, people who are participants in the registry may be asked if they are willing to participate in research trials that might improve our diagnoses, assessment or management of the disease. By coordinating research efforts at this international level, the registry scientists hope to make more rapid progress than individual scientists could achieve working in isolation.

9. Health And Medical Information Produced By Doctors - MedicineNet.com An alpha1 antitrypsin deficiency article with details such as what it is, normal lungs and how they work, smoking, risk factors, how it is inherited, signs, symptoms and treatment. http://www.medicinenet.com/Script/Main/Art.asp?li=MNI&ArticleKey=278

10. MedlinePlus Alpha-1 Antitrypsin Deficiency alpha1 antitrypsin deficiency http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. Alpha-1 Antitrypsin Deficiency - Patient UK A list of resources and support for persons living in the UK who are interested in alpha1 antitrypsin deficiency. http://www.patient.co.uk/showdoc.asp?doc=90

12. American Thoracic Society/European Respiratory Society Statement Standards for the Diagnosis and Management of Individuals with alpha1 antitrypsin deficiency http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. Alpha One Foundation alpha1 antitrypsin deficiency (Alpha-1) is a condition that is passed on from parents to their children through genes. This condition may result in serious http://www.alphaone.org/alpha1/what_is_alpha1.html

What is Alpha-1? Alpha-1 Fast Facts Alpha-1 Antitrypsin Deficiency (Alpha-1) is a condition that is passed on from parents to their children through genes. This condition may result in serious lung and/or liver disease at various ages in life. There may be up to 100,000 people with Alpha-1 (ZZ) in the United States. The most common signs and symptoms of Alpha-1 are Shortness of breath Wheezing Chronic cough and sputum (phlegm) production (chronic bronchitis) Recurring chest colds Eyes and skin turning yellow (jaundice) Swelling of the abdomen (ascites) Gastrointestinal bleeding (from large veins in the esophagus or stomach) Decreased exercise tolerance Non-responsive asthma or year-round allergies Unexplained liver problems or elevated liver enzymes Bronchiectasis Alpha-1 has been identified in virtually all populations . It is estimated that as many as 1 in every 2,500 Americans have Alpha-1. An estimated 20 million people have one normal and one defective alpha-1 gene. People with one normal gene and one defective gene (for example MZ) are called “carriers”. Carriers may pass the defective gene on to their children.

14. American Thoracic Society/European Respiratory Society Statement Your browser does not support frames. Click here to view the unframed reprint. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. Family History The Three-Generation Pedigree Society/European Respiratory Society statement standards for the diagnosis and management of individuals with alpha1 antitrypsin deficiency. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

16. Alpha-1 Antitrypsin Deficiency / Family Village Library Who to Contact * Where to Go to Chat with Others * Learn More About It * Web Sites * Search Google for alpha1 antitrypsin deficiency http://www.familyvillage.wisc.edu/lib_alph.htm

Alpha-1 Antitrypsin Deficiency Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search Google for "Alpha-1 Antitrypsin Deficiency" Who to Contact Alpha-1 Association 275 West Street, Suite 210 Annapolis, Maryland 21401 fax (410) 216-6983 info@alpha1.org http://www.alpha1.org The mission of this association is to improve, through support, education, and research, the quality of life of those affected by alpha1-antitrypsin deficiency. Available services include: offering support and education to patients with A1AD, the general public, and the medical community; acting as a clearinghouse of information to assist healthcare professionals and individuals with A1AD; acting as an advocate for people with A1AD; and aiding in support of research of A1AD. Where to Go to Chat with Others Alpha1 Lungs and Life Learn More About It Alpha-1-antitrypsin Deficiency - A Simplified Description From the Alpha-1 Association Understanding Alpha-1 Antitrypsin Deficiency Medline Plus Alpha-1 Antitrypsin Deficiency Cleveland Clinic Alpha-1 antitrypsin deficiency Genetics Home Reference Web Sites Alpha One Foundation Alpha-1 Antitrypsin Deficiency National Association AlphaNet Online Texas Alpha-1 Resource Support Group ... Spiderspun Alpha1 Web Site Back to [ A - B Family Village Home Library Coffee Shop ... Information Last Updated 4/7/2005 by familyvillage@waisman.wisc.edu

17. Alphanet Alphas Serving Alphas to living with Alpha1Antitrypsin Deficiency on Wherever you live, AlphaNet has a coordinator with Alpha-1 ready to talk to you about what http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

18. {alpha}1-Antitrypsin Deficiency {middle Dot} 6 New And Emerging Alpha1-antitrypsin (AAT) deficiency is a genetic condition that increases the risk of developing lung and liver disease, as well as other http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

19. Alpha-1 Antitrypsin Deficiency - Genetics Home Reference What other names do people use for alpha1 antitrypsin deficiency? alpha-1 antitrypsin deficiency is an inherited disorder that can cause lung disease http://ghr.nlm.nih.gov/condition=alpha1antitrypsindeficiency

Home What's New Browse Handbook ... Search Alpha-1 antitrypsin deficiency Related Gene(s) Quick links to this topic MedlinePlus Health Information Genes and Disease Genetic disorder summaries Educational resources Information pages Patient support For patients and families Gene Tests DNA test labs ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog References Alpha-1 antitrypsin deficiency On this page: What is alpha-1 antitrypsin deficiency? How common is alpha-1 antitrypsin deficiency? ... help with understanding alpha-1 antitrypsin deficiency? What is alpha-1 antitrypsin deficiency? Alpha-1 antitrypsin deficiency is an inherited disorder that can cause lung disease in adults and liver disease in adults and children. The first signs of lung disease caused by alpha-1 antitrypsin deficiency usually appear between ages 20 and 40. The earliest symptoms are shortness of breath following mild activity, reduced ability to exercise, and wheezing. Other symptoms can include unintentional weight loss, recurring respiratory infections, fatigue, a barrel-shaped chest, rapid heartbeat upon standing, and vision abnormalities. Smoking or exposure to tobacco smoke accelerates the appearance of symptoms and damage to the lungs. About 10 percent of infants and 15 percent of adults also have liver damage caused by alpha-1 antitrypsin deficiency. Symptoms of liver disease can include a swollen abdomen, coughing up blood, swollen feet or legs, and yellowing of the skin and whites of the eyes (jaundice).

20. Alpha-1 Antitrypsin Deficiency - Liver Health Information - The American Liver F Alpha1 - antitrypsin deficiency is a hereditary disease that may lead to hepatitis and cirrhosis. It is the most common genetic cause of liver disease in http://64.227.163.135/cgi-bin/dbs/articles.cgi?db=articles&uid=default&ID=1044&v

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