Heterozygotie voor [alpha]1-antitrypsinedeficiëntie als cofactor bij de ontwikkeling van een chronische leveraandoening

– 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 α₁-antitrypsin (AT) deficiency. α₁-AT deficiency can lead to cirrhosis of the liver and pulmonary emphysema. There are indications that heterozygous α₁-AT deficiency can contribute to the development of a chronic liver disease, even when the serum level of α₁-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 α₁-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 α₁-AT serum level. A liver biopsy remains the gold standard for establishing the presence of α₁-AT deposits in the liver.

Ned Tijdschr Geneeskd 2005;149:2057-61