Alpha-1-antitrypsin deficiency is a genetic disorder that may result in lung disease or liver disease.

What is the Pathology of Alpha-1-Antitrypsin Deficiency?

The pathology of alpha-1-antitrypsin deficiency is:

-Etiology: The cause of alpha-1-antitrypsin deficiency is changing (pathogenic variants, also known as mutations ) in the SERPINA1 gene.

-Genes involved: SERPINA1.

-Pathogenesis: The sequence of events that lead to alpha-1-antitrypsin deficiency  includes a mutation in the SERPINA1 gene.

-Histology: The histology associated with alpha-1-antitrypsin deficiency shows periportal red hyaline globules with periodic acid-Schiff (PAS) stain. 

How does Alpha-1-Antitrypsin Deficiency Present?

Patients with alpha-1-antitrypsin deficiency typically affect males and females present at an age range of 30-50 years old. The symptoms, features, and clinical findings associated with alpha-1-antitrypsin deficiency include Shortness of breath and wheezing, repeated lung infections, tiredness, rapid heartbeat upon standing, vision problems, and weight loss.

How is Alpha-1-Antitrypsin Deficiency Diagnosed?

Alpha-1-antitrypsin deficiency is diagnosed using blood tests and liver biopsy.

How is Alpha-1-Antitrypsin Deficiency Treated?

Alpha-1-antitrypsin deficiency is treated  with bronchodilators, inhaled steroids, antibiotics, and intravenous infusions

What is the Prognosis of Alpha-1-Antitrypsin Deficiency?

The prognosis of alpha-1-antitrypsin deficiency is good with a normal life expectancy.