[New therapeutic possibilities in alpha 1-antitrypsin deficiency].

The alpha-1-antitrypsin gene is localized to chromosome 14. Numerous genetic variations may occur and some of these result in severely reduced concentration in the serum. The commonest cause of severe deficiency of alpha-1-antitrypsin is the gene-variant Z in the homozygotic form which occurs in one out of 2,000 Danes. Severe deficiency in alpha-1-antitrypsin results in liver symptoms in approximately 10% of the children. Some of these will develop cirrhosis of the liver. In adults at the ages of about 30 to 40 years, gradual development of emphysema occurs and this is earliest and most pronounced in smokers. Adults have also increased frequency of cirrhosis but this is much less pronounced than the development of emphysema. In addition to a number of theoretical therapeutic possibilities, liver transplantation is now possible and this is employed particularly in children with cirrhosis. In young persons with terminal pulmonary insufficiency with anticipated survival for less than one year, heart/lung transplantation or possibly isolated lung transplantation may be considered. An alpha-1-antitrypsin concentrate has been produced. Intravenous dosage once monthly can provide a concentration in the serum for three to four weeks which, as a rule, suffices to prevent emphysema. It is not yet known whether this treatment has any prophylactic effect in cases of developed emphysema. It is to be anticipated that treatment instituted prior to development of emphysema will prevent development of pulmonary disease but the treatment is rather expensive and must, probably, continue throughout life. No controlled investigation of the effect of treatment is available and the range of indications is not defined.