3. MTB Step 3 - Alpha-1 Antitrypsin Deficiency

Question 1

PRESENTATION

Which (2) Disorders combine in Alpha-1 Antitrypsin Deficiency?

Answer 1

COPD

and

Cirrhosis

Question 2

PRESENTATION

1. Which (3) Findings (2 clinical presentations, 1 PMHx) should you look for in suspected Alpha-1 Antitrypsin Deficiency?

Answer 2

1. COPD (clinical presentation)
2. Age < 40yo (clinical presentation)
3. Non-Smoker (PMHx)

Question 3

MANAGEMENT

What are (4) Diagnostic Tests that should be performed in a patient with suspected Alpha-1 Antitrypsin Deficiency?

Answer 3

1. Chest X-Ray (CXR): COPD findings
   
   • ​​BullaeatBaseofLungs
   • Barrel Chest
   • Flattening of the Diaphragm due to hyperinflated lungs
2. Blood Tests:
   
   • Low Albumin level
   • Elevated Prothrombin Time (caused by Cirrhosis)
3. Alpha-1 Antitrypsin level:
   
   • Low
4. Genetic Testing:
   
   • Positive

Question 4

MANAGEMENT

What is the Treatment for Alpha-1 Antitrypsin Deficiency?

Answer 4

Alpha-1 Antitrypsin Infusion