Apha-1 Antitrypsin deficiency Flashcards
What is A1AT?
Inhertited condition tha results in a lack of a protease inhibitor (Pi) normally produced by the liver
What is A1AT produced by?
The liver
What organs are normally affected by A1AT?
Lungs
Liver
What is the function of A1AT?
Protect cells from enzymes such as neutrophil elastas
What does A1AT deficiency result in?
Emphysema in younger non-smoking patients
What type of inheritance does A1AT deficiency have?
Autosomal recessive
Which chromosome is affected in someone with A1AT deficiency?
Chromosome 14
What genotype do people who manifest the disease have?
PiZZ genotype
How are the lungs affected in someone with A1AT deficiency?
Panacinar emphysema, most marked in lower lobes
Where is the panacinar emphysema most marked in someone with A1AT deficiency?
It is most marked in the lower lobes
How is the liver affected in someone with A1AT deficiency?
Cirrhosis and hepatocellular carcinoma
How can A1AT deficiency be diagnosed?
A1AT concentrations
spirometry: obstructive picture
What would you find on spirometry of someone with A1AT deficency?
Obstructive picture
(FEV1 = 60% FEV1/FVC = 0.65)
What can be used in the management of A1AT deficiency?
no smoking
supportive: bronchodilators, physiotherapy
intravenous alpha1-antitrypsin protein concentrates
surgery: lung volume reduction surgery, lung transplantation
What surgeries can be carried out in people with A1AT deficiency?
Lung volume reduction surgery
Lung transplant
