Alpha 1-antitrypsin deficiency (?1-antitrypsin deficiencyA1AD or simply Alpha-1) is an autosomal recessive genetic disorder caused by defective production of alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.[1] There are several forms and degrees of deficiency. Severe A1A deficiency causes panacinar emphysema and/or COPD in adult life in many people with the condition (especially if they are exposed to cigarette smoke), as well as various liver diseases in a minority of children and adults, and occasionally more unusual problems.[2] It is treated by avoidance of damaging inhalants, by intravenous infusions of the A1AT protein, by transplantation of the liver or lungs, and by a variety of other measures, but it usually produces some degree of disability and reduced life expectancy.


Associated diseases

?1-antitrypsin deficiency has been associated with a number of diseases:

Cirrhosis

COPD

Pneumothorax

Asthma

Wegener’s granulomatosis

Pancreatitis

Gallstones

Bronchiectasis

Pelvic organ prolapse[4]

Primary sclerosing cholangitis

Autoimmune hepatitis

Emphysema, predominantly involving the lower lobes and causing bullae

Cancer

Hepatocellular carcinoma (liver)

Bladder carcinoma

Gallbladder cancer

Lymphoma

Lung cancer

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