41. Experts, Consultants, Authorities - Alpha-1 Antitrypsin Deficiency Specialty alpha1 antitrypsin deficiency. AMFS, Inc. (American MedicalForensics). 2640 Telegraph Avenue Berkeley, California 94704 http://www.hgexperts.com/listing/Medical-Experts-Alpha-1-Antitrypsin-Deficiency.

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42. Alpha-1 Antitrypsin Deficiency alpha1 antitrypsin deficiency alpha-1 antitrypsin deficiency. Alpha-1-antitrypsinDeficiency. alpha-1 antitrypsin deficiency; Treatment, Prevention, Cure. http://www.ability.org.uk/alpha1_antitrypsin_deficiency.html

Our Aims Services Stats ... Z Alpha-1 Antitrypsin Deficiency Alpha-1 Antitrypsin Deficiency Alpha-1-antitrypsin Deficiency Patient UK - Alpha-1-antitrypsin deficiency Alpha-1-Antitrypsin Deficiency (AAT ... Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

43. ThirdAge - Adam - Alpha-1 Antitrypsin Deficiency alpha1 antitrypsin deficiency. Definition AAT deficiency. Causes, incidence, andrisk factors alpha-1 antitrypsin deficiency results from a genetic defect. http://www.thirdage.com/health/adam/ency/article/000120.htm

document.write(''); document.write(''); document.write('<'); document.write('/SCRIPT>'); document.write(''); document.write(''); document.write('<'); document.write('/A>'); document.write('<'); document.write('/NOSCRIPT>'); document.write('<'); document.write('/IFRAME>'); Activities Computers Family Tree Health ... Prevention Alpha-1 antitrypsin deficiency Definition: A deficiency of a protein produced in the liver that blocks the destructive effects of certain enzymes. The condition may lead to emphysema and liver disease Alternative Names: AAT deficiency Causes, incidence, and risk factors: 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. Lungs Liver anatomy Review Date: 12/2/2001 Reviewed By: Steven Kawut, M.D., Division of Pulmonary, Allergy, and Critical Care Medicine, Columbia University College of Physicians and Surgeons, New York City, NY. Review provided by VeriMed Healthcare Network.

44. Alpha 1 Antitrypsin What is alpha1 antitrypsin deficiency? Symptoms of alpha-1 antitrypsin deficiency.· Shortness of breath at rest or exercise. · Wheezing. · Coughing. http://www.pcca.net/Alpha1Antitrypsin.htm

About Our Practice Our Home Page About Dr. Shea About Our Office Patient Information Terminology Medication Medication Costs Pulmonary Topics ... Web Sites of Interest Critical Care Info for Families Procedure Photos Bronchoscopy Thoracentesis Smoking Cessation Registration Support Forum Web site Links FeedBack Information Satisfaction Survey FeedBack Form What's New What's New Page What is Alpha-1 Antitrypsin Deficiency? How is the Deficiency Inherited? Are You at Risk? ... Antitrypsin Deficiency What is Alpha-1 Antitrypsin Deficiency? This is a rare inherited form of emphysema, and is called alpha-1 antitrypsin (A AT) deficiency-related emphysema, or early onset of emphysema. This form of the disease is caused by an inherited lack of protective protein in a person’s blood, which protects the lungs from germs, dust, air pollution, cigarette smoke and other inhaled irritants. Without an adequate supply of A AT, substances in the white blood cells can damage the tissues of the body. It is estimated that 50,00 to 100,000 Americans living today were born with this deficiency.

45. Qango : Health: Diseases And Conditions: A: Alpha-1 Antitrypsin Deficiency category Options Help. Home Health Diseases and Conditions A alpha1 antitrypsin deficiency, Suggest a Site. Health, etc. If you http://www.qango.com/dir/Health/Diseases_and_Conditions/A/Alpha-1_Antitrypsin_De

Chat Forums Free Email Personals Classifieds ... Help Qango Directory Alpha-1 Antitrypsin Deficiency all of Qango only this category Options Help Home Health ... A > Alpha-1 Antitrypsin Deficiency Suggest a Site Health, etc If you would like to suggest a site for this category please click here Home Health Diseases and Conditions ... A > Alpha-1 Antitrypsin Deficiency Suggest a Site Home Suggest a Site Search ... Login

46. Alpha-1 Antitrypsin Deficiency alpha1 antitrypsin deficiency. alpha-1 antitrypsin deficiency allelesand severe cystic fibrosis lung disease. Thorax. 1998;531022-4. http://www.umdnj.edu/rspthweb/bibs/antitryp.htm

Alpha-1 Antitrypsin Deficiency Belai Y, Hernandez-Juviel JM, Bruni R. Addition of alpha1-antitrypsin to surfactant improves oxygenation in surfactant-deficient rats. Am J Respir Crit Care Med. Piitulainen E, Eriksson S. Decline in FEV1 related to smoking status in individuals with severe alpha1-antitrypsin deficiency (PiZZ). Eur Respir J. Alpha-1-Antitrypsin Deficiency Registry Study Group. Survival and FEV1 decline in individuals with severe deficiency of alpha1-antitrypsin. Am J Respir Crit Care Med. Cassina PC, Teschler H, Konietzko N, et al. Two-year results after lung volume reduction surgery in alpha1- antitrypsin deficiency versus smoker's emphysema. Eur Respir J. Mahadeva R, Lomas DA. Genetics and respiratory disease. 2. Alpha 1-antitrypsin deficiency, cirrhosis and emphysema. Thorax. Mahadeva R, Stewart S, Bilton D, Lomas DA. Alpha-1 antitrypsin deficiency alleles and severe cystic fibrosis lung disease. Thorax. Paone G, Brantly M. alpha 1-antitrypsin deficiency. Monaldi Arch Chest Dis.

47. Alpha-1-Antitrypsin Defiency site. Specific references relating to alpha1 antitrypsin deficiencyas well as emphysema and pulmonary problems in general. Recent http://www.doctorpage.com/findit/Diseases_and_Conditions/Alpha_1_Antitrypsin_Def

doctorpage Diseases and Conditions Alpha 1 Antitrypsin Deficiency Displaying listings 1-5 Alpha1-antitrypsin deficiency (A1AD) related emphysema Often misdiagnosed as chronic asthma or chronic bronchitis http://flalpha.org/ David H. Perlmutter, M.D Department of Pediatrics Molecular Cell Biology Program Immunology Program The net balance of destructive enzymes and their inhibitors is thought to influence connective tissue turnover and remodelling during homeostasis, inflammation/tissue injury and development http://www.cellbio.wustl.edu/FACULTY/perlmutt.htm Australian respiratory support group with international links to lung disease, medical sites, hospitals and respiratory support groups. http://www.vicnet.net.au/~huffpuff Pulmonary Medicine at PhysicianMD.net Board Certified Pulmonologist owned and directed site. Specific references relating to alpha-1 antitrypsin deficiency as well as emphysema and pulmonary problems in general. Recent changes in availability of Prolastin will be discussed. Replaces www.prochera.com. http://www.PhysicianMD.net

48. EMedicine - Alpha1-Antitrypsin Deficiency : Article By Paul Fairman, MD Synonyms and related keywords alpha1 antiprotease deficiency, alpha1antiprotease deficiency, alpha-1 antitrypsin deficiency, AAT. http://www.emedicine.com/med/topic108.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Medicine, Ob/Gyn, Psychiatry, and Surgery Pulmonology Alpha1-Antitrypsin Deficiency Last Updated: February 14, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: alpha-1 antiprotease deficiency, alpha1 antiprotease deficiency, alpha-1 antitrypsin deficiency, AAT AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Paul Fairman, MD , Medical Director of Lung Transplant Service, Professor, Department of Internal Medicine, Divisions of Pulmonary and Critical Care Medicine, Medical College of Virginia Paul Fairman, MD, is a member of the following medical societies: American College of Chest Physicians American College of Physicians American Thoracic Society , and International Society for Heart and Lung Transplantation Editor(s): Ryland P Byrd, Jr, MD , Chief of Pulmonary Medicine, Medical Director of Respiratory Therapy, Quillen VA Medical Center, Professor, Department of Internal Medicine, Division of Pulmonary Medicine and Crit, Quillen College of Medicine;

49. Alpha-1 Antitrypsin Deficiency : Meddie Health Search search options. Home Health Conditions and Diseases GeneticDisorders alpha1 antitrypsin deficiency. ITEMS LINKS Alpha http://www.meddie.com/search/Health/Conditions_and_Diseases/Genetic_Disorders/Al

HOME ADD A LINK MODIFY A LINK NEW LINKS ... TOP RATED Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases ... Genetic Disorders : Alpha-1 Antitrypsin Deficiency ITEMS: LINKS: Alpha 1 Awareness Alliance A site where members of the medical professions and the public can find information about alpha 1-antitrypsin- deficiency. Includes news, reports and links. (Rating: 0.00 Votes: 0) Rate It Alpha One Foundation Information about the organization, research, and news as well as alpha 1-antitrypsin deficiency. (Rating: 0.00 Votes: 0) Rate It Alpha-1 Antitrypsin Deficiency Association Information about this non profit organization as well as the disorder, research, membership and contact details. (Rating: 0.00 Votes: 0) Rate It MedicineNet An Alpha-1 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. (Rating: 0.00 Votes: 0) Rate It Patient UK A list of resources and support for persons living in the UK who are interested in Alpha-1 Antitrypsin Deficiency. (Rating: 0.00 Votes: 0)

50. Disability - Alpha-1 Antitrypsin Deficiency alpha1 antitrypsin deficiency. Updated on March 21, 1999, HOME. Alpha-1National Association (USA)Alpha1 National Association, a non http://www.ilusa.com/links/disable/Antitryp.htm

Alpha-1 Antitrypsin Deficiency Updated on March 21, 1999 HOME Alpha-1 National Association (USA) Alpha1 National Association, a non-profit, membership organization, dedicated to improving the lives of individuals and their families affected by alpha1-antitrypsin deficiency. Alpha One Foundation (USA) The Alpha One Foundation is the only national research organization solely dedicated to developing the means to cure and control Alpha1-antitrypsin deficiency and to improve the quality of life for those with the disorder. Robin Musketts Alpha Site (UK) Robin Muskett has been involved in supporting sufferers with A1AD in the UK for seveal years. Alpha-1 International Mailing List A mailing list where Alphas can find information and support worldwide. Owned and maintained by an Alpha Claude Baril. AlphaLink works to improve the online communications and support for the Alpha1 International Community. A.S.S.I.S.T.

51. GoGuides.Org Directory | Alpha 1-Antitrypsin Deficiency URL http//www.alpha1.org/ Canadian Lung Association alpha1 antitrypsin deficiency- Features a short article about this disorder which is inherited and may http://www.goguides.org/index.php/viewCat/13257

Home Connective Tissue Disorders Alpha 1-Antitrypsin Deficiency News ... URL Submission Status Sponsored Link: Sponsored Link: Advertise Here Alpha 1-Antitrypsin Deficiency: Number of Matches: 3 Alpha-1 Association - Offers information about the organization and alpha 1 antitrypsin defeciency. Includes research, a bulletin board and professional education. URL: http://www.alpha1.org/ Canadian Lung Association: Alpha-1 Antitrypsin Deficiency - Features a short article about this disorder which is inherited and may cause lung or liver disease. URL: http://www.lung.ca/diseases/alph1.html MEDLINEplus: Alpha-1 Antitrypsin Deficiency - Presents links to articles and overviews, clinical trials, nutrition and organizations. URL: http://www.nlm.nih.gov/medlineplus/alpha1antitrypsindeficiency.html < Previous Pages: Next >> Guide needed for this topic. Apply to edit this category Link To GoGuides Advertising ... GoGuide Profiles © 2003 GoGuides.Org. Registration Pending

52. The Federal Air Surgeon's Medical Bulletin, Summer 2002: An Airman With Alpha-1 An Airman with alpha1 antitrypsin deficiency. Case Report, by Luis A.Moreno, MD, and Alex M. Wolbrink, MD. alpha-1 antitrypsin deficiency. http://www.cami.jccbi.gov/AAM-400A/FASMB/FAS200202/alpha.htm

An Airman with Alpha-1 Antitrypsin Deficiency Case Report, by Luis A. Moreno, MD, and Alex M. Wolbrink, MD Alpha-1 antitrypsin deficiency, caused by a rare genetic defect, may manifest in adults as early-onset chronic obstructive pulmonary disease (COPD). Clinical suspicion for this disorder may be derived from history and physical examination alone and the diagnosis may be confirmed by appropriate testing. Confirmation of the diagnosis does not necessarily lead to revocation of medical certification, especially for those airmen who can demonstrate stable conditions. Background A 49-year-old, nonsmoker, Caucasian male with 725 total hours of flight time applied for renewal of his third-class FAA airman medical certificate. His medical history was significant for chronic obstructive pulmonary disease secondary to hereditary alpha-1 antitrypsin (AAT) deficiency (ZZ type). His outpatient management included daily bronchodilator therapy with ipratropuim bromide (Atrovent) and beclomethasone dipropionate (Beclovent), as well as biweekly intravenous AAT replacement therapy (Prolastin). On physical examination, distant sounds were not heard during lung auscultation and hepatomegaly was not evident from abdominal palpation. Inspection of the thorax, however, revealed a "slight increase" in anterior-posterior diameter of the chest. The remainder of the exam was described as unremarkable. The airman was initially diagnosed six years earlier with AAT deficiency. Mild dyspnea with exertion characterized his major symptom at the time of presentation. Clinically, the patient did not report worsening conditions since the time of diagnosis. However, his most recent pulmonary function tests (PFTs) indicated severe airway obstruction with hyperinflation. Diffusing capacity demonstrated a significant decrease compared with that from the previous two years (DLCO 70% vs. 55% of predicted). Although not significant, flow rates also revealed a decrease compared with that from the previous two years (FEV1/FVC ratio of 35% vs. 32% of predicted).

53. Alpha-1 Antitrypsin Deficiency Information Page Diseases Database alpha1 antitrypsin deficiency Information Page. Alpha-1 antitrypsindeficiency Goalpha-1 antitrypsin deficiency specific sites. http://www.diseasesdatabase.com/sieve/item1.asp?glngUserChoice=434

54. Bayer Alpha 1: Choose Your Country On this site you will find information about alpha1 antitrypsin deficiency, thediseases caused by the deficiency and the Bayer product Prolastin, Alpha 1 http://www.prolastin.com/

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55. Alpha-1 Antitrypsin Deficiency 12/27/2002 a1 Antitrypsin Deficiency http://www.learningradiology.com/lectures/chestlectures/alpha1antitryp.htm

56. Alpha-1 - What Is Alpha-1? - General Information - A Simplified Description .. By JackLieberman, MD. alpha-1-antitrypsin STATEMENTS. alpha-1-antitrypsin...... alpha1-antitrypsin deficiency - A Simplified http://www.alpha1.org/what/geninfo_description.htm

Alpha-1 Association 815 Connecticut Ave., NW Suite 1200 Washington, DC 20006-4004 Phone: (202) 887-1900 Toll-Free: (800) 521-3025 Fax (202) 887-1964 E-mail info@alpha1.org You are at: home what is alpha-1? general info a simplified description Alpha-1-antitrypsin Deficiency - A Simplified Description..... By Jack Lieberman, M.D. ALPHA-1-ANTITRYPSIN STATEMENTS Alpha-1-antitrypsin deficiency is a common hereditary disorder characterized by a reduction of serum levels of Alpha-1, emphysema, and occasionally liver disease. Alpha-1 is a blood protein of small size that diffuses into tissue spaces and protects the tissues from being digested by enzymes released from inflammatory cells. When Alpha-1 is deficient or absent, infection or inflammation can destroy tissue cells. This is seen most commonly in the lungs, which are always exposed to the environment (especially to cigarette smoke), and emphysema develops as the lung septae are eaten away. Alpha-1 is produced in the liver and is normally released into the blood. A gene mutation sometimes produces an abnormal form of this protein which gets hung up in the liver and can 92t enter the blood stream. This form (called the Z variant, or PiZ (protease inhibitor Z)) is the most common cause of Alpha-1. Another form PiS is more common but causes a less severe deficiency. Other variants also occur.

57. Alpha-1-antitrypsin Deficiency alpha1-antitrypsin deficiency. alpha-1-antitrypsin deficiency From OnlineMendelian Inheritance in Man. alpha-1-antitrypsin deficiency http://cpmcnet.columbia.edu/dept/gi/alpha1AT.html

Alpha-1-antitrypsin Deficiency Alpha-1-antitrypsin Deficiency From Online Mendelian Inheritance in Man. Alpha-1-Antitrypsin Deficiency National Association An association for support, education, and research for individuals and their families affected by alpha-1-antitrypsin deficiency (A1AD). Diseases of the Liver Home Page Diseases of the Liver/Howard J. Worman, M. D./hjw14@columbia.edu

58. Antitrypsin Deficiency alpha 1antitrypsin deficiency. Two mutant alleles, S and Z, account formost of the disease associated with alpha-1-antitrypsin deficiency. http://www.people.virginia.edu/~rjh9u/antitryp.html

alpha 1-ANTITRYPSIN DEFICIENCY The serine proteases are a group of closely related proteolytic enzymes, with serine in their active site, which play a key role in coagulation and fibrinolysis and in kinin and complement activation. The activities of these enzymes are controlled at least in part by specific inhibitors known collectively as serine protease inhibitors, or serpins. The serine protease inhibitor found in highest concentration in plasma is alpha 1-antitrypsin, a 52-kDa glycoprotein, which accounts for 90% of the total alpha-1-globulin in plasma. Despite its name, the major function of alpha-1-antitrypsin is to inhibit the activity of elastase generated by neutrophils in the lung. The major phenotype of alpha-1-antitrypsin deficiency is destruction of pulmonary alveoli resulting in ehronie obstructive pulmonary disease or emphysema. The gene for alpha-1-antitrypsin is highly polymorphic, with more than 70 different alleles described in the European population. The different forms of alpha-1-antitrypsin, frequently designated as Pi for proteinase inhibitor, are commonly distinguished by differences in electrophoretic mobility. The most common allele in the European population is Pi M , with an allele frequency of 0.95; 90% of white Europeans have the

59. Alpha-1-antitrypsin alpha1-antitrypsin. alpha-1-antitrypsin deficiency can lead to early onsetof emphysema (a degenerative lung disorder) and/or liver failure. http://gslc.genetics.utah.edu/units/newborn/infosheets/alpha.cfm

Genetic Science Learning Center at the Eccles Institute of Human Genetics University of Utah Home ... Full Medical Reports Alpha-1-antitrypsin Alpha-1-antitrypsin Alpha-1-antitrypsin deficiency can lead to early onset of emphysema (a degenerative lung disorder) and/or liver failure. These symptoms usually appear when a person is in their 30's or 40's. Symptoms are more severe in smokers than in nonsmokers. Genetics This disorder is caused by a mutation in the proteinase inhibitor (PI) gene on chromosome 14. The normal protein coded for by this gene is involved in tissue repair. Disorder symptoms depend on which type of mutation an individual has in the PI gene. There are more than 70 different alleles of the PI gene. The M allele is the most common non-disease causing (normal) variant. The mutant alleles S and Z are the most common disease-causing variants. Individuals homozygous for the Z allele (PI ZZ) are at high risk for emphysema and liver disease. Individuals homozygous for the S allele (PI SS) do not display symptoms of the disease. However, individuals with one copy of the Z allele and one copy of the S allele (PI SZ) may develop emphysema. Inheritance Autosomal recessive.

60. Alpha-1 Related Emphysema Information about A1AD related emphysema which is caused by an inherited lack of a protective protein Category Health Conditions and Diseases Emphysema...... alpha1 related emphysema or alpha-1 deficiency, is caused by an inheritedlack of a protective protein called alpha-1 antitrypsin (AAT). http://www.lungusa.org/diseases/luna1ad.html

Home Diseases A to Z Article Search Site Local Search Enter Your ZIP Alpha-1 Related Emphysema March 30, 2003 March 2002 What is Alpha-1 Related Emphysema? How Is AAT Deficiency Inherited? Who Is Most At Risk? How Does Emphysema Develop? ... Additional Information WHAT IS ALPHA-1 RELATED EMPHYSEMA? Alpha-1 related emphysema or Alpha-1 deficiency, is caused by an inherited lack of a protective protein called alpha-1 antitrypsin (AAT). In normal and healthy individuals, AAT protects the lungs from a natural enzyme (called neutrophil elastase) that helps fight bacteria and clean up dead lung tissue. However, this enzyme can also eventually damage lung tissue if not neutralized by AAT. If allowed to progress, this form of emphysema becomes chronic and lung tissue continues to be destroyed; eventually it is fatal if the progress is not slowed down or halted. HOW IS AAT DEFICIENCY INHERITED? Every person inherits two AAT genes, one from each parent. A person has AAT Deficiency (Alpha-1) only if he or she inherits two abnormal genes. People who have only one abnormal gene and one normal AAT gene are "carriers.” Their AAT levels may be lower than normal, but not as low as the deficiency state, and their risk of significant health problems is much lower than those with the severe deficiency.

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