Insuficienţa hepatică acută ca formă de debut în boala Wilson în adolescenţă

Abstract

Introduction. Wilson’s disease (WD) is an autosomal re­ces­sive disease of copper metabolism involving the liver, the nervous system and other organs. In children, the main form is represented by liver disease, with a very variable pre­sen­ta­tion, from mild elevation of transaminases to acute liver failure. In adolescence, mainly in girls, WD can pre­sent as nonimmune hemolytic anemia with acute liver fai­lure (ALF). This case report aims to raise awareness about the ALF as a severe presentation form in WD. Case pre­sen­ta­tion. We report the case of a 13-year-old girl who was admitted to our hospital with abdominal pain and jaun­dice. The laboratory parameters revealed hemolytic ane­mia, a mild increase of transaminases, a very high bi­li­ru­bin level, and severe coagulopathy. The ceruloplasmin level was 6 mg/dl. The diagnosis was Wilson’s disease with non-­im­mune hemolytic anemia and acute liver failure. The ge­ne­tic results confirmed the WD diagnosis; our patient pre­sen­ted homozygous status for p.Lys844Ter (c.2530A>T) va­riant of the ATP7B gene. Chelating therapy was started with D-penicillamine alongside supportive therapy, and we re­ferred her to liver transplantation, which was performed with success five days later. Conclusions. Acute liver fai­­lure is a rare but very severe form of Wilson’s disease, with a high risk of death without liver transplantation. Early diagnosis and referral to a specialized center for the consideration of liver transplantation are vital in these patients. Chelating therapy could be lifesaving, and extracorporeal liver support could be used until the emergency liver transplantation is available.