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Doctor insights on: Alpha 1 Antitrypsin Phenotype

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If my alpha -1 antitrypsin serum is 1.23 g/lit, do i need antitrypsin phenotype test?

If my alpha -1 antitrypsin serum is 1.23 g/lit, do i need antitrypsin phenotype test?

Liver tests: It seems this above normal in some of labs. it is low level that causes liver disease. ...Read more

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Had 3 lab tests for alpha 1 antitrypsin serum level,first result was 1.35g/lit, next 1.29g/lit and last test 1.23g/lit,do i need A1AT phenotype test?

Had 3 lab tests for alpha 1 antitrypsin serum level,first result was 1.35g/lit, next 1.29g/lit and last test 1.23g/lit,do i need A1AT phenotype test?

Minimal risk of emph: The range for alpha 1 antitrypsin (A1AT) is < 80 mg/dL, or 0.8 g/L. You are above that threshhold, so the diagnosis can't be confirmed by this test. The heterozygous PI*MZ mutations causes levels 0.8 to 1.9 g/L but carries only minimal risk of emphysema. http://www.merckmanuals.com/professional/pulmonary-disorders/chronic-obstructive-pulmonary-disease-and-related-disorders/alpha-1-antitrypsin-def ...Read more

Dr. Jeffrey Unger Dr. Unger
<b>2</b> doctors agreed:
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I had a stoolanalysis done and found out that I have a high pH value (8.0) and an increased level of Alpha-1-Antitrypsin (34,2 U/ml). Whatdoesthismean?

I had a stoolanalysis done and found out that I have a high pH value (8.0) and an increased level of Alpha-1-Antitrypsin (34,2 U/ml). Whatdoesthismean?

Probably not much: Stool pH varies chaotically with diet and what bugs happen to be there. Stool antitrypsin is sometimes used to screen for protein-losing enteropathy. The units you give are not standard but I'll assume that they're elevated. If they are greatly above reference range, it's one more piece of information for the workup, suggesting at least some of the gut lining is significantly damaged. ...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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Alpha-1-antitrypsin quantitation - what is that?

Alpha-1-antitrypsin quantitation - what is that?

Diagnosis of AAT def: Alpha-1-antitrypsin is a protease inhibitor of the enzyme elastase. Deficiency can result in disease of the lung, liver, and skin. The serum level is quantified in the diagnosis of aat deficiency. If the aat serum level is greater than 80 mg/dl, it is unlikely that the patient has clinically significant aat deficiency. ...Read more

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Can you tell me is alpha-1 antitrypsin always terminal?

Can you tell me is alpha-1 antitrypsin always terminal?

No: It may be mild or severe. You're born with it, you are likely to become short of breath in middle age (hopefully you are a non-smoker), and the liver disease may come on at any time in your life, or never. ...Read more

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Can you tell me which ages do alpha-1 antitrypsin deficency effect?

Can you tell me which ages do alpha-1 antitrypsin deficency effect?

Any: Shortness of breath usually develops from the lung disease in the 40's. The liver disease can show up at any age from infancy to later middle age, or never. Nobody knows why. ...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