Gourt > Health > Conditions and Diseases > Genetic Disorders > Alpha 1 Antitrypsin Deficiency
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. More on [ Alpha 1-antitrypsin deficiency ]
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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.
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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.
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University of Cambridge - Laboratory in Cambridge, UK, researching the cause and treatment of alpha1-antitrypsin deficiency.
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