title: [Heterozygosity for alpha1-antitrypsin deficiency as a cofactor in the development of chronic liver disease].
abstract: In 3 patients, 2 men aged 51 and 40 years and a 50-year-old woman, with liver-function disorders due to excessive consumption of alcohol, the liver function deteriorated rapidly resulting in the patients' death. All 3 were found to be heterozygous for alpha1-antitrypsin (AT) deficiency. Alpha1-AT deficiency can lead to cirrhosis of the liver and pulmonary emphysema. There are indications that heterozygous alpha1-AT deficiency can contribute to the development of a chronic liver disease, even when the serum level of alpha1-AT is within the normal range, especially in association with other risk factors such as alcohol abuse or chronic viral hepatitis. Persons with this mutation also have an increased risk for the development of cryptogenic cirrhosis and primary liver-cell carcinoma. Determination of the alpha1-AT phenotype should perhaps be recommended for all patients with a chronic liver disease, especially if the liver function deteriorates more rapidly than expected, even in the presence of a normal alpha1-AT serum level. A liver biopsy remains the gold standard for establishing the presence of alpha1-AT deposits in the liver.
authors.affiliation: Ziekenhuis Rijnstate, afd. Maag-, Darm- en Leverziekten, Postbus 9555, 6800 TA Arnhem. kkok2@alysis.nl
authors.forename: K F
authors.initials: KF
authors.lastname: Kok
authors.forename: P J
authors.initials: PJ
authors.lastname: Wahab
authors.forename: R A
authors.initials: RA
authors.lastname: de Vries
mesh_terms: D000328:Adult; D000437:Alcoholism / Q000150:complications; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008103:Liver Cirrhosis / Q000453:epidemiology* / Q000209:etiology* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D012307:Risk Factors; D000515:alpha 1-Antitrypsin / Q000378:metabolism; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications* / Q000235:genetics*
chemical_list: D000515:alpha 1-Antitrypsin