A1AT Deficiency Flashcards
1
Q
What chromosome is A1AT located on?
A
Chromosome 14
2
Q
What type of mutation is A1AT deficiency?
A
Autosomal recessive
3
Q
What are the complications of A1AT deficiency? (Gastro and respiratory)
A
Liver cirrhosis
Bronchiectasis and emphysema
HCC
4
Q
How is A1AT deficiency diagnosed?
Note: there is one investigation on this list that diagnoses respiratory A1AT
A
Low A1AT
Liver biopsy showing acid-Schiff-positive staining globules
Genetic testing
High resolution CT thorax (respiratory)
5
Q
What is the management of A1AT deficiency? What is the one thing you should not do in management of it?
A
Stop smoking
Symptomatic management
Organ transplant
Monitoring complications
DO NOT use replacement A1AT
