Idiopathic Hemochromotosis and Alpha-1-antitrypsin Deficiency: Coexistence in a Family with Progressive Liver Disease in the Proband

Overview

Journal Hepatology

Specialty Gastroenterology

Date 1983 Sep 1

PMID 6604688

Citations 2

Authors

S Anand

R R Schade

C Bendetti

R Kelly

B S Rabin

J Krause

T E Starzl

S Iwatsuki

D H Van Thiel

Affiliations

Soon will be listed here.

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.

Citing Articles

Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease.

Schaefer B, Haschka D, Finkenstedt A, Petersen B, Theurl I, Henninger B Hum Mol Genet. 2015; 24(21):6254-63.

PMID: 26310624 PMC: 4599680. DOI: 10.1093/hmg/ddv348.

Increased PiZ gene frequency for alpha 1 antitrypsin in patients with genetic haemochromatosis.

Elzouki A, Hultcrantz R, Stal P, Befrits R, Eriksson S Gut. 1995; 36(6):922-6.

PMID: 7615285 PMC: 1382634. DOI: 10.1136/gut.36.6.922.

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