Doctor insights on:
Alpha 1 Antitrypsin Mutation
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
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
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 moreSee 1 more doctor answer
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
Normal: All it means is that you do not have alpha 1 anti-trypsin deficiency. ...Read more
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 moreSee 1 more doctor answer
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
Liver tests: It seems this above normal in some of labs. it is low level that causes liver disease. ...Read more
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
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
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
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
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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