[ALFA-1 antitrypsin deficiency, a commonly missed cause of chronic liver disease in theadult: presentation of 9 cases with review of current literature]

Abstract

Introduction: Alfa 1-antitrypsin deficiency is one of the most prevalent genetic diseases in the human being, sadly it is not a commonly suspected clinical entity. With more than 100 known mutations, those associated with hepatic disease are the Z homocygote allele mutations in the gene a1AT which occur in every 2000-3500 births. Opposing to the pulmonary disease, in which de sequelae are caused by the deficit of this protein which in turn fastens the enzymatic destruction of the airway microstructure, the hepatic compromise is secondary to the intracellular accumulation of the aberrant misfolded protein. This accumulation causes cellular damage, hepatitis, fibrosis, cirrhosis and hepatocellular carcinoma through activation of a series of mechanisms which culminate in hepatocitary apoptosis, regeneration and chronic cellular injury.

Materials and methods: 9 cases of confirmed a1AT deficiency are presented, from different ages ranging from adolescence through elderly patients.

Results: Each of one of them with different clinical presentation going from asymptomatic liver enzyme elevations to transplanted cirrhosis in which the diagnosis was post procedural.

Conclusion: We comment about the management of the chronic liver disease and the evolution of these patients through time in the liver clinic.