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. Alpha-1 antitrypsin (AAT) is a protein that protects the lungs. The liver usually makes the protein, and releases it into the bloodstream. Because of a gene problem, some people have little or none of it. Not having enough AAT puts you at risk of emphysema or liver problems. Three in four adults with a severe deficiency will get emphysema, some when they are younger than 40. If you smoke, you increase your risk. Children with AAT deficiency can develop liver problems that last their whole lives.

AAT deficiency can be treated but not cured. One treatment involves adding to or replacing the missing protein. A lung transplant may be an option if you are seriously ill. Staying away from cigarette smoke is crucial.

A blood test can tell if you have the deficiency. If you have it, your family members should also take the blood test.

Alpha 1-Antitrypsin Deficiency on Wikipedia

'''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 dyspnea, 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.'' Alpha 1-antitrypsin (AAT) is produced in the liver, and one of its functions is to protect the lungs from the elastase enzyme. Normal blood levels of alpha-1 antitrypsin are 1.5-3.5 gram/litre. In individuals with PiSS, PiMZ and PiSZ phenotypes, blood levels of AAT are reduced to between 40 and 60 percent of normal levels. This is sufficient to protect the lungs from the effects of elastase in people who do not tobacco smoking. However, in individuals with the PiZZ phenotype, AAT levels are less than 15 percent of normal, and patients are likely to develop emphysema at a young age; 50 percent of these patients will develop cirrhosis, because the A1AT is not secreted properly and instead accumulates in the liver. A liver biopsy biopsy in such cases will reveal Periodic acid-Shiff-positive, diastase-negative granules. Cigarette smoke is especially harmful to individuals with A1AD. In addition to increasing the inflammation ... [ Read More ]

External Resources

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.

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.

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

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.

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

Alpha1 Antitrypsine Deficiency - One man's perspective and journey with A1AD and a list of links and other resources from the internet.

Alpha 1 Association - Organization which attempts to identify those affected by alpha-1-antitrypsin deficiency and to improve their quality of their lives through support, education, advocacy and research.

Alpha One Registry - Database of individuals with Alpha1-Antitrypsin Deficiency, a genetic disorder associated with pulmonary emphysema and liver disease. Includes participant benefits, a bulletin board, and recent findings.

Related Pages on HealthTales.com:

Tetrahydrobiopterin deficiency
Biotinidase deficiency
Arginase deficiency
Pyruvate carboxylase deficiency
Primary carnitine deficiency
Ornithine translocase deficiency
Ornithine transcarbamylase deficiency
N-acetylglutamate synthase deficiency
Holocarboxylase synthetase deficiency
Guanidinoacetate methyltransferase deficiency

Alpha-1 Antitrypsin Deficiency