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DR Medhat MRCP

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• Features<br />

Homozygous PiZZ →(A1AT levels = 10-15% of normal i.e severe deficiency).<br />

Heterozygos<br />

سؤال genotype. Patients who manifest disease usually have PiZZ<br />

lungs: Panacinar emphysema, most marked in lower lobes.<br />

liver:<br />

1. Cirrhosis and hepatocellular carcinoma in adults.<br />

2. Cholestasis in children.<br />

• Association :<br />

سؤال<br />

Malignancies :HCC ,lung cancer &bladder cancer<br />

GB stones /pancreatitis.<br />

COPD /bronciectaisis<br />

1ry sclerosing cholangitis.<br />

Wegener`s granulomatosis<br />

PiSZ→ (A1AT levela = 40% of normal)<br />

Homozygous PiSS →(A1AT levels = 60% of normal).<br />

Heterozygos PiMZ → (A1AT levels = 60 % of normal)<br />

Heterozygos PiMS →(A1AT levels = 80 % of normal)<br />

Normal<br />

PiMM →(α-1 antitrypsin level = 100% normal)<br />

Pelvic prolapse.<br />

• Investigations:→ α-1 antitrypsin concentrations<br />

• Management→ DC smoking + the following<br />

Supportive: bronchodilators + inhaled steroids + physiotherapy.<br />

Intravenous alpha1-antitrypsin protein concentrates (not recommended by NICE).<br />

Surgery: volume reduction surgery, lung transplantation, liver transplant in children.<br />

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