2. Symptoms related to lungs:

a. Shortness of breath

b. Wheezing

c. Cough & sputum that last for a long time (symptoms of chronic bronchitis)

d. Less exercise tolerance

e. Asthma that aggressive medications can’t treat

f. Year-around allergies

3. Symptoms related to liver:

a. Unexpected liver disease or elevated liver enzymes

b. Eyes and skin turning yellow (jaundice)

c. Swelling of the abdomen (ascites) or legs

d. Vomiting blood

4. Risk factors:

a. Cigarette smoking

b. Occupational and other exposures that decrease lung functions

5. Diagnosis: a. Patients with following conditions should get AAT deficiency test:

i. Emphysema in a young individual (eg, age 45yo)

ii. Emphysema in a nonsmoker or minimal smoker

iii. Family history of emphysema and/or liver disease

iv. Clinical findings or history of unexplained chronic liver disease

6. Treatment:

a. IV augmentation therapy replacing AAT protein

b. Quit smoking

c. Lung or liver transplantation in serious cases

7. More information:

Alpha-1 Foundation: https://www.alpha1.org/what-is-alpha1

8. Reference:

1. http://www.slideshare.net/BintIbri/genetic-presentation-29466603
2. https://www.nlm.nih.gov/medlineplus/ency/article/000120.htm
3. https://www.alpha1.org/what-is-alpha1
4. http://www.uptodate.com.jerome.stjohns.edu:81/contents/clinical-manifestations-diagnosis-and-natural-history-of-alpha-1-antitrypsin-deficiency?source=machineLearning&search=Alpha-1+Antitrypsin+deficiency&selectedTitle=1~88&sectionRank=1&anchor=H1551012490#H346591381