Chronic diarrhea, hepatomegaly and elevated serum transaminases: a case report

We report a case of a 2-year-old girl with severe A1AT (alfa 1 antitrypsin deficiency), who developed diarrhea, elevated serum liver enzymes and hepatomegaly without any other clinical conditions that may accompany A1AT deficiency. During the first two decades of life, liver dysfunction is the major threat to the health of alpha-1-antitrypsin affected individuals, and pulmonary dysfunction is not a major concern. A1AT deficiency is approximately as common as cystic fibrosis, and today becomes imperative to identify affected individuals due to the availability of specific therapy for A1AT deficiency. The diagnosis of severe A1AT deficiency is confirmed by demonstrating a serum level below 80 mg/dL (11 µmol/L) in combination with a severe deficient genotype.