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.
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.
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.
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.
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.