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Doctor insights on: Alpha 1 Antitrypsin Mutation

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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

Mutation (Definition)

In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more


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Alpha-1-antitrypsin quantitation - will it tell me if I have a hereditary problem?

Alpha-1-antitrypsin quantitation - will it tell me if I have a hereditary problem?

AAT deficiency: Measurement of alpha-1-antitrypsin serum concentration is used to determine if a patient has the inherited disorder 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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Caring for an Elderly Loved One (Checklist)

Check your loved one's balance
once
Remove obstructions that could cause falls
once
Organize medications
monthly
Add railings for support
once
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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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Could marijuana smoking be dangerous when you are a carrier for alpha-1 antitrypsin deficiency?

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

Dr. Jeffrey Unger Dr. Unger
<b>2</b> doctors agreed:
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Living with Type 1 Diabetes (Checklist)

Hypoglycemia is common with type 1 diabetes
once
Check your blood glucose before and after 2 hours after eating
once
Hypoglycemia is likely if the post meal glucose is lower than premeal
once
If you do not feel hypo symptoms, consider use of a continuous sensor
once
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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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What does " ALPHA-1-ANTITRYPSIN " mean?Component Standard Range Your Value 90 - 200 mg 218 why is mine elevated?

What does " ALPHA-1-ANTITRYPSIN " mean?Component	Standard Range	Your Value                        90 - 200 mg           218

why is mine elevated?

Alpha-1: Alpha-1-antitrypsin is a protein produced by the liver which helps to protect the liver and lungs from damage. Approximately 1 in 2,500 people have a deficiency (hereditary) which puts them at higher risk for early lung (COPD) and liver disease (cirrhosis, cancer). This deficiency can be detected by a blood test. ...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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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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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 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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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