A1 Trypsin Deficieincy Flashcards
(50 cards)
What is Alpha-1 antitrypsin (A1AT) deficiency?
A common inherited condition caused by a lack of a protease inhibitor normally produced by the liver
What is the primary role of A1AT?
To protect cells from enzymes such as neutrophil elastase
What disease does A1AT deficiency classically cause?
Emphysema (chronic obstructive pulmonary disease)
Which patients are most affected by emphysema due to A1AT deficiency?
Young and non-smokers
On which chromosome is the A1AT gene located?
Chromosome 14
How is A1AT deficiency inherited?
In an autosomal recessive / co-dominant fashion
What are the alleles classified by their electrophoretic mobility?
- M for normal
- S for slow
- Z for very slow
What is the genotype for normal A1AT levels?
PiMM
What is the genotype for heterozygous A1AT?
PiMZ
What is the A1AT level in homozygous PiSS genotype?
50% normal A1AT levels
What is the A1AT level in homozygous PiZZ genotype?
10% normal A1AT levels
What genotype do patients who manifest A1AT deficiency usually have?
PiZZ genotype
What lung condition is associated with A1AT deficiency?
Panacinar emphysema, most marked in lower lobes
What liver conditions can occur in adults with A1AT deficiency?
- Cirrhosis
- Hepatocellular carcinoma
What liver condition can occur in children with A1AT deficiency?
Cholestasis
What investigations are used to diagnose A1AT deficiency?
- A1AT concentrations
- Spirometry showing obstructive picture
What is a key management strategy for patients with A1AT deficiency?
No smoking
What supportive treatments are available for A1AT deficiency?
- Bronchodilators
- Physiotherapy
What specific treatment involves intravenous administration for A1AT deficiency?
Intravenous alpha1-antitrypsin protein concentrates
What surgical options are available for severe cases of A1AT deficiency?
- Lung volume reduction surgery
- Lung transplantation
What is Alpha-1 antitrypsin (A1AT) deficiency?
A common inherited condition caused by a lack of a protease inhibitor normally produced by the liver
What is the primary role of A1AT?
To protect cells from enzymes such as neutrophil elastase
What disease does A1AT deficiency classically cause?
Emphysema (chronic obstructive pulmonary disease)
Which patients are most affected by emphysema due to A1AT deficiency?
Young and non-smokers
