Alpha 1-antitrypsin deficiency (?1-antitrypsin deficiency, A1AD 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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