Aplha-Antitrypsin Deficiency

Question 1

What is the inheritance pattern for alpha-1 antitrypsin deficiency?

Answer 1

Autosomal recessive

Question 2

How does alpha-1 antitrypsin deficiency usually present in children.

Answer 2

AATD rarely causes symptoms in children, and typically doesn’t manifest until the 5th decade of life. In children who do develop symptoms, liver symptoms are more common than lung symptoms.

Question 3

Which pulmonary abnormalities are seen with α1-antitrypsin deficiency?

Answer 3

Suspect homozygous AATD in nonsmokers with early-onset emphysema with lower-lobe predominance. Heterozygotes have no increase in pulmonary disease unless the individual smokes, in which case the pulmonary symptoms are similar to those seen in homozygotes.

Question 4

Which liver abnormalities are seen with α1-antitrypsin deficiency?

Answer 4

About 15% of homozygotes get progressive liver fibrosis and cirrhosis - the manifestation most likely to be seen in children.

Question 5

How is alpha-1 antitrypsin deficiency diagnosed?

Answer 5

Testing includes measurement of α1-antitrypsin levels. Patients with low serum or plasma levels then undergo genetic testing.

Question 6

How is alpha-1 antitrypsin deficiency treated?

Answer 6

Treat with IV α1-antitrypsin. Lung transplant may be considered if the emphysema is severe.