Alpha1 antitrypsin deficiency in chronic liver disease, and a report of cirrhosis and emphysema in adult members of a family.

A family study of coeliac disease.

“…Such a model exists in the emphysema which results from a combination of homozygosity for the Z allele at the Pi locus plus cigarette smoking, and where the Z gene is so common that dominant inheritance is mimicked in some families (Kumar et al, 1974). Indeed, coeliac disease has been regarded by some (Burman, 1964;Townley, 1973) as an inborn error of metabolism inherited as an autosomal recessive, though this is doubted by others (Frezal and Rey, 1970), and is not easily reconciled with the HL-A antigen data.…”

Adult alpha1-antitrypsin deficiency.

“…Recent reports have shown that deficiency of this glycoprotein enzyme inhibitor may be associated with cirrhosis in older age groups also (eg, Ishak et al, 1972;Kumar et al, 1974). We present here the case histories of three adult patients with cx1-AT deficiency which demonstrate unusual features of this disorder.…”

“…It has been estimated that two-thirds of individuals homozygous for the deficiency will develop emphysema (Eriksson, 1965) but the reason why the remaining third do not develop it is obscure. Cirrhosis occurring in adult homozygous individuals has been described both with (Berg and Eriksson, 1972;Babb et al, 1973;Cohen et al, 1973) and without (Ishak et al, 1972;Kumar et al, 1974) emphysema. In heterozygous individuals emphysema does occur (Kanner et al, 1973;Stevens et al, 1971) and cirrhosis has also been described in two heterozygotes (Campra et al, 1973;Brand et al, 1974), but the combination of cirrhosis and emphysema in the heterozygous state has not been reported before.…”

Alpha-1-Antitrypsin Deficiency, Mitochondrial Antibodies and Possible Primary Biliary Cirrhosis A Case Report and Family Study

“…Reports of liver disease in adults with deficiency of this glycoprotein are scarce but include cases of portal liver cirrhosis (1,3,5,8,13,14,15,18). We here present a case of a woman with severe a l A T deficiency, emphysema, portal cirrhosis and, apparently, with florid duct lesion of chronic nonsuppurative destructive cholangitis (primary biliary cirrhosis) who has a high titre of mitochondrial antibodies.…”