Description of Medical ServicePurified human A1-PI for the treatment of adults with congenital deficiency of alpha1-proteinase inhibitor, who have clinically significant lung disease and are receiving best supportive care for chronic obstructive pulmonary disease (COPD).
Description of Medical ConditionAlpha1-proteinase inhibitor (A1-PI) deficiency, also known as alpha1-antitrypsin deficiency, is a rare hereditary disorder, characterised by low blood serum concentration of A1-PI, predisposing patients to COPD, characterised by panacinar emphysema.
A1-PI deficiency results when the liver produces an abnormally low and insufficient level of serum A1-PI. Severe deficiency results in the inability to maintain an appropriate anti-proteinase defence, subjecting the individual to life-long and progressive loss of lung tissue.
Extra-pulmonary manifestations include different types of liver disease (including cirrhosis, hepatitis and hepatoma), necrotizing panniculitis, systemic vasculitis, and other inflammatory and neoplastic diseases.
The progression of lung disease is typically slow, with symptoms often appearing within the fourth or fifth decade of life, with a delay of 7 to 10 years before appropriate diagnosis. Natural history studies have indicated that severe A1-PI leads to considerably reduced life expectancy, and that emphysema and liver disease are the most common causes of death.