alpha 1 antitrypsin deficiency

Question 1

caused by

Answer 1

an abnormality in a gene for a protease inhibitor called apha-1 antitrypsin

Question 2

what is elastase

Answer 2

enzyme secreted by neutrophils

it digests connective tissues

Question 3

what is alpha-1 antitrypsin

Answer 3

mainly produced by liver

travels round body and offers protection by inhibiting the neutrophil elastase enxyme

Question 4

A1AT gene which chromosome

Answer 4

chromosome 14

Question 5

A1AT deficiency

Answer 5

autosomal recessieve defect in the gene for A1AT

Question 6

two main organs affected by A1AT deficienc are ….

Answer 6

liver –> cirrhosis after 50yrs

lungs –> bronchiecstais and emphysema after 30yrs

Question 7

A1AT deficiency and the liver

Answer 7

the abnormal mutant version of A1AT gets trapped in liver and builds up causing liver damage

progresses to cirrhosis and can lead to hepatocellular carcinoma

Question 8

A1AT deficiency and the lung

Answer 8

excess of protease enzymes attack connective tissue in lungs

leads to bronchiecstasis and emphysema over time

Question 9

diagnosing

Answer 9

low serum alpha 1 antitrypsin
liver biopsy
genetic testing
CT thorax

Question 10

what does liver biopsy show

Answer 10

cirrhosis

acid-schiff-positive staining globules

Question 11

Mx

Answer 11

stop smoking
symptomatic
organ transplant
monitor for complications