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Doctor insights on: Alpha 1 Antitrypsin Deficiency

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Can you tell me the effects of alpha one antitrypsin deficiency and is it safe for people with it to take drugs?

Can you tell me the effects of alpha one antitrypsin deficiency and is it safe for people with it to take drugs?

Emphysema: Individuals with anti Alpha 1 deficiency are more prone to the environmental oxidative factors such as polution, smoking, etc therefore they get emphysema eventually especially if they smoke. Logically these individuals could get lung/liver damage if take medications which are inceasing oxidative status. Shahzeidi, md. ...Read more

Dr. Gregory Moneta
29 doctors shared insights

Inherited Emphysema (Definition)

Inherited emphysema = alpha-1 antitrypsin deficiency which can destroy lung tissue ...Read more


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My son has a1 antitrypsin deficiency. Can someone explain what this means?

My son has a1 antitrypsin deficiency. Can someone explain what this means?

A1AT -geneticdeficit: Alpha1 Antitrypsin is an enzyme produced in the liver.It's a protease inhibitor.Simply put, it works to protect the liver and lungs.Usually the lungs are most affected with complications of emphysema at a relatively early age (before 45 and without smoking history) - worse if there is a smoking history. Depending on whether there is partial or complete absence of the enzyme will dictate symptoms ...Read more

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What do you suggest if my son has a1 antitrypsin deficiency & could anyone explain more ?

What do you suggest if my son has a1 antitrypsin deficiency & could anyone explain more ?

Genetic disorder: This is an inherited disorder that affects the lungs and liver. People often show the signs of the illness between 20 to 50 years of age. The lung symptoms are wheezing, difficulty breathing. The liver symptoms can look like cirrhosis and include yellowing of the skin. Follow closely with his doctor and avoid exposure to people who smoke. ...Read more

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What is alpha 1 antitrypsin deficiency?

What is alpha 1 antitrypsin deficiency?

Genetic disease: It's quite variable in severity. The lack of the helpful antitrypsin protein in the blood prevents the neutralization of enzymes from white cells that tend to decrease the elasticity of the lungs. The enzyme itself accumulates in the liver which can't get it into the circulation and this can ruin the liver. This can happen at any age and no one knows why it varies so much; or the liver may be fine. ...Read more

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What are characterists of alpha-1 antitrypsin deficiency?

What are characterists of alpha-1 antitrypsin deficiency?

Early emphysema: Early onset emphysema, especially in a non-smoker, is most common characterisitic of Alpha 1 at deficiency, other abnormalities include early onset liver disease. ...Read more

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How to treat alpha1-antitrypsin deficiency/emphysema?

How to treat alpha1-antitrypsin deficiency/emphysema?

Enzyme replacement: The enzyme can be replaced by monthly IV treatments to raise blood levels to adequate levels. ...Read more

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What are alpha-1 antitrypsin deficiency tests like?

What are alpha-1 antitrypsin deficiency tests like?

Blood test: Blood, more accurately serum, is examined for levels of Alpha 1 at. Electophoresis of serum also reveals deficiency and a detailed electrophoresis, iso-electric focusing, provides details of the abnormal protein. Dna also can be tested to ascertain the abnormality in the gene. ...Read more

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What sort of problem is alpha-1 antitrypsin deficiency?

What sort of problem is alpha-1 antitrypsin deficiency?

Genetic, familial: Genetic abnormality that can run in families, associated with emphysema, even without the usual triggers like tobacco use, and cirrhosis of the liver, even in the absence of triggers like chronic infection, alcohol use. Can cause problems in children and/or in adults. Can be tested for, can be rx'd. ...Read more

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What are the symptoms of alpha 1 antitrypsin deficiency?

What are the symptoms of alpha 1 antitrypsin deficiency?

Emphysema: Aat deficiency affects primarily the lungs, leading to copd, particularly a panacinar emphysema. Symptoms are variable, but usually involve shortness of breath on exertion, cough, or wheezing. It can also affect the liver, causing chronic hepatitis, cirrhosis, and hepatocellular carcinoma. Necrotizing panniculitis is a rare clinical manifestation involving the skin. ...Read more

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What are the symptoms of alpha-1 antitrypsin deficiency?

What are the symptoms of alpha-1 antitrypsin deficiency?

Early emphysema: Lung and liver are the target organs in Alpha 1 at deficiency. Children may develop liver disease like cirrhosis. The commonest symptoms are due to early development of emphysema, e.g., shortness of breath, barrel chest, and later heart failure. ...Read more

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What is alpha-1 antitrypsin deficiency and what do I do about it?

What is alpha-1 antitrypsin deficiency and what do I do about it?

Genetic problem: Because of this gene mutation, body becomes deficient in Alpha -1 - antitrypsin protein and manifests as chronic lung disease, just like in COPD pts but affects a younger population and affects the bases of the lung more than the apices.. Fortunately it is available to take on a daily basis to bring the levels of a1at within 'normal' range. ...Read more

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Please tell me the characterists of alpha-1 antitrypsin deficiency?

Please tell me the characterists of alpha-1 antitrypsin deficiency?

Shortness of breath: Alpha 1 antitrypsin (aat) is a molecule in the blood and alveolar space. This naturally occuring molecule is protecting alveolar walls from breaking by trypsin which is also naturally occuring molecule during lipid metabolism of the cells. Trypsin is causing oxidative damage to the cells and needs to be scavenged. Aat deficiency is a genetic disorder with abnormal production of the aat molecule. ...Read more

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What is the definition or description of: Alpha 1 antitrypsin deficiency?

What is the definition or description of: Alpha 1 antitrypsin deficiency?

Lack of alpha-1 AT: Trypsin is a protein (an enzyme) that the body uses to remove damaged/"unwanted" proteins. This protein needs to attack the right targets specifically but not nearby healthy necessary proteins. To help keep trypsin under control, another group of proteins have developed. Alpha-1 antitrypsin (alpha-1 AT) is a very important one. If a person is deficient, they tend to get emphysema at an early age. ...Read more

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If my grandmother had alpha-1 antitrypsin deficiency, should I be tested?

If my grandmother had alpha-1 antitrypsin deficiency, should I be tested?

Maybe: If one has a family history of homozygous alpha1antitrypsin deficiency, then one should consider testing, as even a carrier of this, especially one with the mz phenotype, may develop lung or liver diseases, in rare cases.If found to be a carrier, one should avoid tobacco, lung pollutants, and alcohol;and one should be vaccinated for hepatitis a and b.For more info, go to alpha1foundation, www.Alphaone.Org, . ...Read more

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My grandmother had alpha-1 antitrypsin deficiency, should I be tested for it?

My grandmother had alpha-1 antitrypsin deficiency, should I be tested for it?

Alpha 1 antitrypsin: The genetics of this deficiency is complicated. The test is widely available for screening. Your question requires an understanding of the implications of a positive test, so that a discussion and or consultation with a geneticist is probably a good idea. ...Read more

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Hello docs, is alpha-1 antitrypsin deficiency life-threatening?

Hello docs, is alpha-1 antitrypsin deficiency life-threatening?

Yes: With some variation, the form presenting in childhood can lead to liver failure and death if a liver transplant is not available. The chronic lung issues are disabling for some. ...Read more

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Anyone with an alpha-1 antitrypsin deficiency with liver problems?

Yes: People with the zz phenotype for alpha1antitrypsin can develop early emphysema, as well as liver disease. Although rare, some of the heterozygotes, e.g. Those with the mz phenotype may also develop lung disease and or liver disease. Go to www.Alphaone.Org. ...Read more

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Does anybody know about alpha-1 antitrypsin deficiency in children with liver problems?

Does anybody know about alpha-1 antitrypsin deficiency in children with liver problems?

Yes: Diagnosis is generally straightforward. It can be difficult to manage and you will need a focused specialist and make initial contact with the transplant people. ...Read more