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Doctor insights on: Medicine For Alpha 1 Antitrypsin Deficiency

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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

Inherited Emphysema (Definition)

Inherited emphysema = alpha-1 antitrypsin deficiency which can destroy lung tissue ...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 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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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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Could alpha-1 antitrypsin deficiency couse emphysema?

Could alpha-1 antitrypsin deficiency couse emphysema?

YES: Alpha one deficiency is highly assosciated with the development of emphysema. ...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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Which is the link btwn the alpha-1 antitrypsin deficiency and the emphysema?

Which is the link btwn the alpha-1 antitrypsin deficiency and the emphysema?

Proteases: Alpha-1-antitrypsin is a protease inhibitor. It is elevated in inflammation to keep the proteases in check which cause tissue damage. Its deficiency allows the neutrophil elastin protease to destroy elastin which are the necessary components in the elasticity of the lung and cause the destruction of the interstitial tissues and cause emphysema. ...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

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What is the link between the alpha-1 antitrypsin deficiency and the emphysema?

What is the link between the alpha-1 antitrypsin deficiency and the emphysema?

Destruction: Alpha-1 anti-trypsin is a protective chemical in the body that prevents destruction of lung and other tissues from the damage that the infection fighting cells can inflict.

When you have a lack of this chemical, the destruction of the infection fighting cells in the body can go unopposed. This is especially true when someone smokes, which attracts those cells to fight off the toxins in the smoke. ...Read more

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Could there be a connection between alpha 1 antitrypsin deficiency and smoking marijuana?

Could there be a connection between alpha 1 antitrypsin deficiency and smoking marijuana?

Not sure: This is an interesting question as Alpha 1 antitrypsin deficiency is not "caused" by cigarette smoking, but can certainly be aggravated by it. Thus, I think it is safe to say that any smoking may aggravate the symptoms of Alpha 1, but I don't think that there is a direct connection as smoking marijuana does not have primary affect on the enzyme activity. ...Read more

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Should a child with COPD have a blood test, to rule out alpha 1 antitrypsin deficiency?

Should a child with COPD have a blood test, to rule out alpha 1 antitrypsin deficiency?

Probably...: If a child has copd, and not asthma, then an alpha-1-anti trypsin level probably ought to be checked. The child needs to have an evaluation so the proper diagnosis and treatment can be given! ...Read more

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Could marijuana smoking be dangerous when you are a carrier for alpha-1 antitrypsin deficiency?

Smoking Marijuana?: Smoking marihuana can cause u to have symptoms similar to schizophrenia and can cause u to be in a motivational state. U r still 18 years old if u r not motivated, how can u succeed in life?! ...Read more

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My mom was tested for Alpha 1 antitrypsin Deficiency, her lab report says her result is 1.65 and the reference range is 1.09-2.88. Interpretation plz?

My mom was tested for Alpha 1 antitrypsin Deficiency, her lab report says her result is 1.65 and the reference range is 1.09-2.88. Interpretation plz?

See below: All laboratory results need to be interpreted in the clinical context and the doctor who ordered the tests is usually in the best position to do that. Having said that, from the data you provided, you mother is not deficient in alpha 1 anti-trypsin. ...Read more

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Had normal spep test but heard about alpha1-antitrypsin deficiency while web surfing, now im concerned. My alpha-1-globulin, was normal 0.25 (0.17 - 0.50 g/d). No symptoms - should I take a1ad test?

Had normal spep test but heard about alpha1-antitrypsin deficiency while web surfing, now im concerned. My alpha-1-globulin, was normal 0.25 (0.17 - 0.50 g/d). No symptoms - should I take a1ad test?

Symptoms...: Alpha 1 antitrypsin deficiency typically presents as chronic obstructive pulmonary disease, or copd, at a younger age. If members of your family have copd, and it was diagnosed younger than usual (like 20s-30s, for example), then it would be reasonable to get tested. But, if neither you nor family members have been diagnosed with copd, then it is unlikely you have Alpha 1 antitrypsin deficiency. ...Read more

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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 is the treatment for alpha-1 antitrypsin deficiency?

AAT deficiency: Standard therapy (of questionable efficacy) involves intravenous or aerosolized augmentation therapy. Some experimental treatments include enhancement of endogenous alpha-1 antitrypsin production and gene therapy. Supportive therapy is important as well and includes smoking cessation, prompt treatment of lower respiratory infections, and getting influenza and pneumococcal vaccinations. ...Read more

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Is it safe to take a nutritional supplement that has trypsin and chemotrypsin if you have an alpha-1 antitrypsin deficiency?

Is it safe to take a nutritional supplement that has trypsin and chemotrypsin if you have an alpha-1 antitrypsin deficiency?

Yes but not helpful: Trypsin ; chemotrypsin being proteins get digested and broken down in to individual Amino Acids before being absorbed from the gut. So in terms of safety, there are no concerns. However, I don't think they have any value of health benefit as nutritional supplements. ...Read more

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I have Alpha 1 Antitrypsin Deficiency, Hep C, Spastic Hemi CP, vision is 20;200. falling apart, numerous doctors no treatment for anything, solutions!

I have Alpha 1 Antitrypsin Deficiency, Hep C, Spastic Hemi CP, vision is 20;200. falling apart, numerous doctors no treatment for anything, solutions!

Medical Marijuana: Your condition is dire. The way this should be treated is too complicated to write in the word limit answer. If you want those answers for treatments, consult me.
Rather than cures to live longer, I'd improve quality of your life. Medical Marijuana can help you with spasticity, drug side-effects, symptoms of liver failure. But should be vaporized or better yet eaten due to ur emphysema. ...Read more

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I have chronic HCV, Alpha 1 antitrypsin Deficiency, and hemi CP I just missed my period andmight be pregnant. What are the complications or risks?

I have chronic HCV, Alpha 1 antitrypsin Deficiency, and hemi CP I just missed my period andmight be pregnant. What are the complications or risks?

Obgyn evaluation: You will need to see an Obgyn who can assess your overall health status. Your liver function should be tested as well as your hepatitis viral load. This information can be used to determine the risk of transmission to the baby. ...Read more

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I woke up with random bruising on my legs, I need to go for blood test to see if I have alpha 1 antitrypsin deficiency. Could this be causeof bruising?

I woke up with random bruising on my legs, I need to go for blood test to see if I have alpha 1 antitrypsin deficiency. Could this be causeof bruising?

AATD vs bruising: While it's due to a genetic liver condition, alpha-1 antitrypsin deficiency typically presents as a lung problem w/shortness of breath & wheezing, often to point of "premature" emphysema w/o typical risk factors eg smoking. Check out http://goo. Gl/C0lUeB & http://goo. Gl/M2EAFC. For bruising, check out http://goo. Gl/dXBDmZ & http://goo. Gl/thCRB2. Ask doc to order appropriate tests about bruising ...Read more