⍶-1-Antitrypsin Deficiency

Question 1

What are the symptoms of ⍶-1-Antitrypsin Deficiency?

Answer 1

Develops between ages 25-50

Start with:
Shortness of breath with mild activity
Decreased exercise capacity
Wheezing

Others include:
weight loss
respiratory infections
fatigue

Emphysema
-trouble breathing
hacking cough
barrel chest

Liver disease:

• infants: jaundice
• Adults: cirrhosis

Question 2

What gene is associated with ⍶-1-Antitrypsin Deficiency?

Answer 2

SERPINA1 gene

M gene (most common)--> normal levels of ⍶-1-Antitrypsin
Z gene (most common variant)--> cause AATD
S gene (less common)--> causes AATD

Question 3

What are the inheritance pattern for ⍶-1-Antitrypsin Deficiency?

Answer 3

Autosomal codominant

Two different variants of the gene may be expressed and both make up the genetic trait

Question 4

What are the phenotypes for the disease?

Answer 4

1 M + 1 Z or 1 S = carrier who may not have normal ⍶-1-Antitrypsin levels but will have enough to protect the lungs
Heterozygote is altered but no severe signs or symptoms

ZZ or SS= will have AATD