Apha-1 Antitrypsin deficiency Flashcards

1
Q

What is A1AT?

A

Inhertited condition tha results in a lack of a protease inhibitor (Pi) normally produced by the liver

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2
Q

What is A1AT produced by?

A

The liver

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3
Q

What organs are normally affected by A1AT?

A

Lungs
Liver

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4
Q

What is the function of A1AT?

A

Protect cells from enzymes such as neutrophil elastas

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5
Q

What does A1AT deficiency result in?

A

Emphysema in younger non-smoking patients

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6
Q

What type of inheritance does A1AT deficiency have?

A

Autosomal recessive

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7
Q

Which chromosome is affected in someone with A1AT deficiency?

A

Chromosome 14

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8
Q

What genotype do people who manifest the disease have?

A

PiZZ genotype

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9
Q

How are the lungs affected in someone with A1AT deficiency?

A

Panacinar emphysema, most marked in lower lobes

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10
Q

Where is the panacinar emphysema most marked in someone with A1AT deficiency?

A

It is most marked in the lower lobes

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11
Q

How is the liver affected in someone with A1AT deficiency?

A

Cirrhosis and hepatocellular carcinoma

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12
Q

How can A1AT deficiency be diagnosed?

A

A1AT concentrations
spirometry: obstructive picture

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13
Q

What would you find on spirometry of someone with A1AT deficency?

A

Obstructive picture
(FEV1 = 60% FEV1/FVC = 0.65)

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14
Q

What can be used in the management of A1AT deficiency?

A

no smoking
supportive: bronchodilators, physiotherapy
intravenous alpha1-antitrypsin protein concentrates
surgery: lung volume reduction surgery, lung transplantation

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15
Q

What surgeries can be carried out in people with A1AT deficiency?

A

Lung volume reduction surgery
Lung transplant

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