BACKGROUND & AIMS: Wilson's disease is a genetic autosomal-recessive copper deposition disorder often presenting with neurologic or hepatic symptoms. In cases of hepatic presentation, treatment usually is initiated with potentially toxic copper chelators, such as D-penicillamine or trientine. Although multiple studies have introduced zinc as a low-toxicity and low-cost Wilson's disease treatment, its use has been limited to adjunctive or single-agent maintenance options. In this report, we describe the use of zinc monotherapy in a patient with severe hepatic presentation of Wilson's disease. METHODS: Zinc has not been evaluated as a single-agent treatment option for active hepatic Wilson's disease. Zinc monotherapy was initiated for a single patient with fulminant hepatic failure caused by Wilson's disease while awaiting liver transplantation. RESULTS: Over a 1-year period with zinc monotherapy, this patient experienced normalization of hepatic synthetic function and resolution of hypoalbuminemia and coagulopathy. Clinical stabilization of variceal bleeds, ascites, and lower-extremity edema also were observed. The patient is no longer a transplant candidate as a result of clinical recovery and improvement of Model for End-stage Liver Disease and Child-Turcotte-Pugh scores. CONCLUSIONS: This case highlights the potential use of zinc as a low-toxicity and low-cost single-agent treatment in severely decompensated hepatic Wilson's disease. Despite promising results in this case, further clinical evaluation will be necessary to assess fully the clinical efficacy of zinc monotherapy.
BACKGROUND & AIMS:Wilson's disease is a genetic autosomal-recessive copper deposition disorder often presenting with neurologic or hepatic symptoms. In cases of hepatic presentation, treatment usually is initiated with potentially toxic copper chelators, such as D-penicillamine or trientine. Although multiple studies have introduced zinc as a low-toxicity and low-cost Wilson's disease treatment, its use has been limited to adjunctive or single-agent maintenance options. In this report, we describe the use of zinc monotherapy in a patient with severe hepatic presentation of Wilson's disease. METHODS: Zinc has not been evaluated as a single-agent treatment option for active hepatic Wilson's disease. Zinc monotherapy was initiated for a single patient with fulminant hepatic failure caused by Wilson's disease while awaiting liver transplantation. RESULTS: Over a 1-year period with zinc monotherapy, this patient experienced normalization of hepatic synthetic function and resolution of hypoalbuminemia and coagulopathy. Clinical stabilization of variceal bleeds, ascites, and lower-extremity edema also were observed. The patient is no longer a transplant candidate as a result of clinical recovery and improvement of Model for End-stage Liver Disease and Child-Turcotte-Pugh scores. CONCLUSIONS: This case highlights the potential use of zinc as a low-toxicity and low-cost single-agent treatment in severely decompensated hepatic Wilson's disease. Despite promising results in this case, further clinical evaluation will be necessary to assess fully the clinical efficacy of zinc monotherapy.
Authors: Abolfazl Avan; Anna Członkowska; Susan Gaskin; Alberto Granzotto; Stefano L Sensi; Tjaard U Hoogenraad Journal: Int J Mol Sci Date: 2022-08-18 Impact factor: 6.208