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, .

Related Questions

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...

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...

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...

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...

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...

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...

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...