PMID: 2117162Jan 1, 1990Paper

The epidemiology of alpha 1-antitrypsin deficiency

Lung
D C Hutchison

Abstract

Alpha 1-protease inhibitor can exist as over 70 different biochemical variants (the Pi system) which are inherited as autosomal-codominant alleles. The majority of these variants are of no clinical significance. Epidemiologically, the most abundant are Pi types M, S, and Z. Homozygotes of type Z have only 10%-20% of the normal serum concentration of the inhibitor and have an increased risk of developing pulmonary emphysema. Cigarette smoking is the most important risk factor. A minority of Pi Z homozygotes (10%-20%) develop a form of neonatal hepatitis and a proportion of these suffer from liver cirrhosis in adult life. Heterozygotes of Pi type SZ have about one third of the normal serum alpha 1-protease inhibitor concentration but this phenotype does not in itself appear to be a significant emphysema risk factor. Heterozygotes of Pi type MZ are thought to have a moderately increased risk of developing emphysema but only if they smoke; there is also evidence for an increased risk of cirrhosis among subjects of type MZ. No excessive risk appears to be attached to the MS phenotype. Cumulative survival curves have suggested that type Z homozygotes have a poor prognosis but such estimates are based on clinic or hospital patients wh...Continue Reading

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Citations

Oct 6, 2000·Clinical Biochemistry·I ZuntarA Zubcić
May 1, 1995·Acta Neurologica Scandinavica·Y I Lolin, A M Ward
May 1, 1992·Respiratory Medicine·T D Tetley
Aug 1, 1995·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·H L Sharp
Jun 10, 1998·The Japanese Journal of Thoracic and Cardiovascular Surgery : Official Publication of the Japanese Association for Thoracic Surgery = Nihon Kyōbu Geka Gakkai Zasshi·N KatohY Maruyama

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