Idiopathic hemochromotosis and alpha-1-antitrypsin deficiency: coexistence in a family with progressive liver disease in the proband

Abstract

A patient with coexistent hemochromatosis and alpha-1-antitrypsin deficiency which led to cirrhosis and death despite adequate therapy for hemochromatosis is reported. Evaluation of the family revealed first degree relatives with iron overload and others with alpha-1-antitrypsin deficiency but none with both conditions. The role of family studies in the early recognition and possible prevention of overt clinical disease in individuals with either of these two genetic diseases is discussed.

Fig. 1

(A) Photomicrograph of original liver biopsy on which the diagnoses of hemachromatosis and cirrhosis were made. Note iron (black pigment) in hepatocytes and bile duct. Prussian blue, × 193. (B) Photomicrograph of liver removed at time of liver transplant which demonstrated only minimal iron (arrows) in bile ductules and hepatocytes. Prussian blue, × 193. (C) Photomicrograph of liver removed at time of liver transplant which demonstrated positive immunoperoxidase staining (black pigment) for AAT in hepatocytes. Note most densely stained hepatocytes are at the periportal margin. × 386.

Fig. 2

Family tree of proband (marked by dark square in second row) and his family. Results of special studies performed on family members are presented for each member as shown by the key in the right upper corner of the figure.