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Alpha 1-antitrypsin deficiency (A1AD or Alpha-1) is a genetic disorder caused by reduced levels of alpha 1-antitrypsin in the blood. It can lead to emphysema and, in some cases, to liver disease.

Signs and symptoms


Symptoms of alpha-1 antitrypsin deficiency include shortness of breath, recurring respiratory infections, or obstructive asthma that does not respond to treatment. Individuals with alpha-1 may develop emphysema during their thirties or forties, without a history of significant smoking (although smoking greatly increases the risk for emphysema). A1AD also causes impaired liver function in some patients and may lead to cirrhosis and liver failure (15%). It is the leading cause of liver transplantation in newborns.

Pathophysiology


Please see alpha 1-antitrypsin for a discussion of the various genotypes and phenotypes associated with A1AD.

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What You Always Wanted To Know About Alpha-1 Antitrypsin Deficiency (Medical Basic Guides): "What You Always Wan... http://t.co/A5wNPFK1
Inauns (Ina Alnutt) Thu, 09 Feb 2012 05:49:21 -0000
What You Always Wanted To Know About Alpha-1 Antitrypsin Deficiency (Medical Basic Guides): "What You Always Wan... http://t.co/A5wNPFK1
Alpha 1 - Antitrypsin Deficiency: Providing a broad overview of basic and clinical aspects of alpha 1-antitrypsi... http://t.co/TbxvqXcn
Chaehjv (Ruth Glaze) Wed, 08 Feb 2012 23:03:55 -0000
Alpha 1 - Antitrypsin Deficiency: Providing a broad overview of basic and clinical aspects of alpha 1-antitrypsi... http://t.co/TbxvqXcn
RT @alpha1canada: RT @Allergy: A 2012 Review of Alpha 1-Antitrypsin Deficiency - from Cleveland Clinic http://t.co/lEFdF3Un
CVCinc (CaringVoiceCoalition) Wed, 08 Feb 2012 17:12:23 -0000
RT @alpha1canada: RT @Allergy: A 2012 Review of Alpha 1-Antitrypsin Deficiency - from Cleveland Clinic http://t.co/lEFdF3Un
RT @Allergy: A 2012 Review of Alpha 1-Antitrypsin Deficiency - from Cleveland Clinic http://t.co/8E9pOxUi
alpha1canada (Alpha-1 Canada) Wed, 08 Feb 2012 16:29:53 -0000
RT @Allergy: A 2012 Review of Alpha 1-Antitrypsin Deficiency - from Cleveland Clinic http://t.co/8E9pOxUi
Alpha-1 Antitrypsin Deficiency Awareness Ribbon Business Card Holder: The Alpha-1 Antitrypsin Deficiency proudly... http://t.co/TUCt8xH6
Felipaqhz (Felipa Stefanski) Wed, 08 Feb 2012 14:21:45 -0000
Alpha-1 Antitrypsin Deficiency Awareness Ribbon Business Card Holder: The Alpha-1 Antitrypsin Deficiency proudly... http://t.co/TUCt8xH6
A 2012 Review of Alpha 1-Antitrypsin Deficiency - from Cleveland Clinic http://t.co/8E9pOxUi
Allergy (Ves Dimov, M.D.) Tue, 07 Feb 2012 22:21:02 -0000
A 2012 Review of Alpha 1-Antitrypsin Deficiency - from Cleveland Clinic http://t.co/8E9pOxUi

 
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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.

500 Alpha-1 Community - Members can submit news, events, photos or any information relating to the disorder. Requires free registration.

Late Manifestation of Alpha-1-antitrypsin Deficiency in the Adult - Literature review of late manifestations including hepatic decompensation and hepatocellular cancer in alpha-1-antitrypsin deficiency.
Meta Description: [ Describes the natural history, incidence and prevalence of cirrhosis and hepatocellular carcinoma in patients with homo- and heterozygote disease ]

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.
Meta Description: [ Focus on Lung Therapies Respiratory Health, including extensive medical information about asthma, lung cancer and pneumonia ]

Patient UK - A list of resources and support for persons living in the UK who are interested in Alpha-1 Antitrypsin Deficiency.
Meta Description: [ Alpha-1 Antitrypsin Deficiency ]

Pediatric Oncall - Offers a description of alpha–l antitrypsin, including the affects on the liver and how it presents.
Meta Description: [ ALPHA-1 ANTITRYPSIN DEFICIENCY Pediatric Oncall ]

Spiderspun - A haven for those affected by Alpha-1 Antirypsin Deficiency. Facts, chat rooms, assistance programs, and reference material.
Meta Description: [ This site was created for the awareness of alpha-1-antitrypsin deficiency; a genetic deficiency that affects the lungs and liver. It is often mis-diagnosed as asthma in adults. ]

Understanding Alpha-1 Antitrypsin Deficiency - Information on signs and symptoms of this disorder, as well as risk factors and treatment.

404 University of Cambridge - Laboratory in Cambridge, UK, researching the cause and treatment of alpha1-antitrypsin deficiency.

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